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1.
Tumour Biol ; 45(1): 1-14, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36806529

RESUMEN

BACKGROUND: Smoking is one of the most popular risk factors provoking bladder cancer (BC). This research intended to estimate cigarette smoking effect involving PAF signs between smoking patients with BC and non-smoking patients with same diagnosis to define relations with pathological characteristics and their prognosis on zero-relapse and disease-associated recovery. METHODS: Two groups of smokers (n = 54) and non-smokers (n = 62) were selected. Both cohorts of patients had BC. They were evaluated utilizing NGS on 9 cancer-related genes and confirmed through the Sanger DNA sequencing and histopathological tests based on H&E staining. The factor of smoking and impact of PAF development by ELISA assay and PAF-R manifestation in terms of immunochemical evaluation on BC areas comparing to a control group (n = 30) was examined involving healthy contributors, including the use of well-designed statistical trials. RESULTS: The multivariate evaluation showed considerable rise in mutation patterns related to smoking among BC patients (group 3), increase in PAF development (***P<0.001) and vivid signs of PAF-R contrasted to non-smokers with BC (group 2) and control group (group 1). All the identified biological changes (gains/losses) were recorded at the same locations in both groups. Patients from group 3 held 3-4 various mutations, while patients from group 2 held 1-3 various mutations. Mutations were not identified in 30 respondents from control group. The most repeated mutations were identified in 3 of 9 examined genes, namely TP53, PIK3CA and PTEN, with highest rates of increase in Group 3. Moreover, histopathological tests revealed barely identifiable and abnormal traits in BC tissues, i.e. were without essential histopathological changes between groups 2 and 3. CONCLUSION: Smoking of cigarettes provokes PAF development due to urothelial inflammation and rise of mutations in 9 cancer-related genes. These are indicative factors of inducing BC.


Asunto(s)
Neoplasias de la Vejiga Urinaria , Humanos , Masculino , Mutación , No Fumadores , Neoplasias de la Vejiga Urinaria/diagnóstico , Neoplasias de la Vejiga Urinaria/genética , Neoplasias de la Vejiga Urinaria/patología , Factor de Activación Plaquetaria/metabolismo
2.
BMC Genomics ; 23(1): 788, 2022 Nov 30.
Artículo en Inglés | MEDLINE | ID: mdl-36451116

RESUMEN

17 Y-chromosomal STRs which are part of the Yfiler Amplification Kit were investigated in 493 unrelated Pakistani individuals belonging to the Punjabi, Sindhi, Baloch, and Pathan ethnic groups. We have assessed the forensic parameters and population genetic structure for each group. Among the 493 unrelated individuals from four ethnic groups (128 Baloch, 122 Pathan, 108 Punjabi, and 135 Sindhi), 82 haplotypes were observed with haplotype diversity (HD) of 0.9906 in Baloch, 102 haplotypes with HD value of 0.9957 in Pathans, 80 haplotypes with HD value of 0.9924 in Punjabi, and 105 haplotypes with HD value of 0.9945 in the Sindhi population. The overall gene diversity for Baloch, Pathan, Punjabi, and Sindhi populations was 0.6367, 0.6479, 0.6657, and 0.6112, respectively. The results had shown us that Pakistani populations do not have a unique set of genes but share the genetic affinity with regional (Central Asia and Northern India) populations. The observed low gene diversity (heterozygosity) values may be because of endogamy trends and this observation is equally supported by the results of forensic parameters which are mostly static across 4 combinations (minimal STRs, extended 11 Y-STRs, Powerplex 12 Y System, and Yfiler 17 Y-STRs) of STRs in these four populations.


Asunto(s)
Pueblo Asiatico , Etnicidad , Humanos , Etnicidad/genética , Pakistán , Haplotipos , Pueblo Asiatico/genética , Variación Genética
3.
Ann Hum Biol ; 49(3-4): 204-209, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35815603

RESUMEN

BACKGROUND: Xibe is the fifth largest minority population of Liaoning province. Predominately they live in Liaoning province (69.52%), followed by Xinjiang (18.06%), Heilongjiang (3.99%), Jilin (1.63%) and Inner Mongolia provinces (1.57%). AIM: To provide an updated and precise population database on an extended set of Y STRs not available before and explore the forensic characteristics of 26 Y chromosomal STRs. SUBJECTS & METHODS: In this study, we genotyped 406 unrelated Xibe male individuals from Liaoning province using Goldeneye® 26Y System kit and calculated the forensic parameters of these 26 Y STRs loci. RESULTS: All haplotypes generated for 406 Xibe samples using Goldeneye® 26Y kit were unique with a discrimination capacity (DC) of 1. On restricting the haplotypes to the Y-filer® set of 17 Y-STRs, we observed 392 haplotypes. Among them 93.53% (380) were unique with a DC of 0.9655 and haplotype diversity (HD) of 0.9998, showing high discrimination power of the extended set of markers in this population. Allelic frequencies ranged from 0.0024 to 0.7684 across 26 Y STRs loci. DYS385 showed the highest gene diversity (0.9691) among all markers. CONCLUSION: According to pairwise RST genetic distances among Xibe populations from China, the Liaoning Xibe population showed the closest genetic distance (0.0035) followed by Xinjiang Xibe population (0.0218). Multidimensional scaling (MDS) analysis among Xibe and 29 other Chinese populations showed that local populations such as Manchu from Liaoning and Han from Beijing had a close affinity while Tibetans from Aba, China, were most distant from Xibe populations. Moreover, 12 individuals showed a null allele at DYS448 in Xibe population samples. We submitted Y-STRs data in the Y-Chromosome Haplotype Reference Database (YHRD) for future forensic and other usage.


Asunto(s)
Cromosomas Humanos Y , Etnicidad , China , Cromosomas Humanos Y/genética , Etnicidad/genética , Frecuencia de los Genes , Genética de Población , Haplotipos , Humanos , Masculino , Repeticiones de Microsatélite
4.
Biol Res ; 54(1): 2, 2021 Jan 06.
Artículo en Inglés | MEDLINE | ID: mdl-33407904

RESUMEN

BACKGROUND: The preventive and therapeutic medical utilization of this plant is an age-long practice across the globe. This study aimed to validate the impact of dark purple blossoms of basil (Ocimum basilicum L.) aqueous extract at low temperature (0 °C) mediated mitochondrial fission contributed to induced apoptosis in human breast cancer cells. METHODS: Fresh blossoms were extracted at low temperature (0 °C) using a watery solvent. Human MCF7 breast cancer cells were then treated with 3 separate fluctuated concentrations of 0, 50, 150 and 250 µg/mL for 24 and 48 h. RESULTS: The outcomes demonstrated the presence of anthocyanins, anthraquinones, tannins, reducing sugars, glycosides, proteins, amino acids, flavonoids and volatile oils and nonappearance of Terpinoids and alkaloids. Contrastingly, frail presence of steroids in basil blossoms aqueous concentrate was noted. In addition, the results from a phytochemical subjective examination of basil (Ocimum basilicum L.) blossoms aqueous extract demonstrated that most of the credited natural impacts containing more remarkable contents of antioxidants and anticancer compounds in basil blossoms aqueous extract. Moreover, the restraint of glucose take-up was alleviated mediated by a dose-dependent manner in MCF7 cells with basil (Ocimum basilicum L.) blossoms aqueous extract inducted for 24 h, resulting in mitochondrial fission. CONCLUSION: This is the first study that shows the impact of the aqueous extract of basil (Ocimum basilicum L.) blossoms was extracted at low temperature (0℃/6 h) underlined high amounts of flavonoids and phenolic compounds bearing more anticancer and antioxidant activities compared to another aqueous extract (using boiled water solvent) and alcoholic extracts.


Asunto(s)
Apoptosis , Flores/química , Dinámicas Mitocondriales , Ocimum basilicum/química , Extractos Vegetales/farmacología , Neoplasias de la Mama , Frío , Humanos , Células MCF-7
5.
J Obstet Gynaecol ; 41(7): 1127-1133, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-33475035

RESUMEN

The study aimed to screen for PIK3CA gene mutations among Saudi women with Ovarian Cancer. The study included 298 Saudi women with epithelial ovarian cancers (EOC). DNA sequence analysis was employed to screen for the mutations. DNA sequence analysis of a coding region of exon 9 and 20 of PIK3CA gene revealed mutations in 37/298 (12.4%) EOC patients. About 21/37(56.8%) somatic mutations were identified in exons 9, and 16/37(43.2%) in exon 20. All analysed mutations were missense mutations, the frequencies of which varied from 2.7% to 43.2%. PIK3CA mutation was found to be significantly associated with age (p = .023), grade (p = .001) and histological types (p = .032). Only 6.6% of serous carcinomas and 3.8% of endometrioid had PIK3CA mutation. The Mutated PIK3CA gene was significantly involved in the pathogenesis of EOC among Saudi women. PIK3CA gene mutation and overexpression represent important clinical implications for diagnosis, and prognosis, which can be utilised for better EOC management.Impact statementWhat is already known on this subject? The detailed molecular and genetic phenomenon underlying the progression of these tumours is still unclear. Recently, the pathogenesis of ovarian cancer has been attributed to mutations of PIK3CA.What do the results of this study add? Mutation in the PIK3CA gene leads to altered PI3K/AKT signalling pathways responsible for the progression of the epithelial ovarian cancer.What are the implications of these findings for clinical practice and/or further research? The Mutated PIK3CA gene was significantly involved in the pathogenesis of EOC among Saudi women. PIK3CA gene mutation and overexpression represent important clinical implications for diagnosis, and prognosis, which can be utilised for better EOC management.


Asunto(s)
Árabes/genética , Carcinoma Epitelial de Ovario/genética , Fosfatidilinositol 3-Quinasa Clase I/genética , Neoplasias Ováricas/genética , Adulto , Biomarcadores de Tumor/genética , Carcinoma Epitelial de Ovario/etnología , Análisis Mutacional de ADN , Exones , Femenino , Humanos , Persona de Mediana Edad , Mutación Missense/genética , Neoplasias Ováricas/etnología , Pronóstico , Estudios Retrospectivos , Arabia Saudita
6.
BMC Oral Health ; 21(1): 626, 2021 12 07.
Artículo en Inglés | MEDLINE | ID: mdl-34876124

RESUMEN

BACKGROUND: Khat leaves contain the alkaloid cathinone. Research shows that khat might provoke toxicity, mutagenicity, as well as carcinogenicity. METHODS: Two groups were identified as khat abusers and were categorized by abuse time and diagnosis of oral squamous cell carcinoma (OSCC). Here, 41 participants from Group 2 were short-term khat users, and 42 participants were long-term khat users. The control group included 30 healthy individuals. The coding exons included nine cancer-related genes and were analysed. The histopathological research was conducted with H&E staining along with the TP53 protein expression by implementing immunohistochemical analyses. RESULTS: Here, 41 short-term khat users carried seven somatic mutations in four out of nine cancer-related genes: 29/41(70.73%) ARID1A, 24/41(58.53%) MLH1, 34/41(82.92%) PIK3CA and 36/41(87.80%) TP53. The 42 long-term khat users incorporated nine somatic mutations in five out of nin ecancer-related genes: 40/42(95.23%) ARID1A, 36/42(85.71%) ARID2, 29/42(69.04%) PIK3CA, 27/42(64.28%) MLH1, and 35/42(83.33%) TP53. Every khat user had somatic mutations related to OSCC affecting the gingiva and the lower lip. TP53 protein expression was confirmed in all immunohistochemical oral tests. Carcinoma was also positive in the histopathological analysis. CONCLUSIONS: Khat is a mutagenic and carcinogenic plant that provoked OSCC among short-term khat users (<15 years of use) and long-term users (>15 years of use).


Asunto(s)
Carcinoma de Células Escamosas , Neoplasias de la Boca , Carcinoma de Células Escamosas/inducido químicamente , Carcinoma de Células Escamosas/genética , Catha/efectos adversos , ADN , Humanos , Neoplasias de la Boca/inducido químicamente , Neoplasias de la Boca/genética , Mutación
7.
Int J Mol Sci ; 20(8)2019 Apr 17.
Artículo en Inglés | MEDLINE | ID: mdl-30999625

RESUMEN

Lamin A/C proteins have key roles in nuclear structural integrity and chromosomal stability. Lamin A/C cumulative protein expression of all variants is reported by semi-quantitative Western blotting. To date, there have not been specific antibodies for the individual Lamin A/C transcript variants. We developed a mass spectrometric approach for the quantification of Lamin A/C transcript variants. A signature peptide for each specific splice variant of Lamin A/C was selected. A LC-MS/MS assay based on the selected signature peptides and their labeled internal standards was established to measure the expression of Lamin A/C transcript variant concentrations. The method validation was carried out according to Food and Drug Administration (FDA) guidelines. The expression levels of the Lamin A/C transcript variants were measured in samples derived from MCF7 and U937 cell lines. RT-qPCR assay was also used to quantitate and compare the mRNA expression of splice variants of Lamin A/C. The established and validated method showed a great linearity, sensitivity, and precision. The different expressed Lamin A/C variants in different cell lines were measured and their levels were in concordance with qRT-PCR results. The developed method is reproducible, reliable, and sensitive for measuring different Lamin A/C transcript variants in different cell lines.


Asunto(s)
Lamina Tipo A/genética , ARN Mensajero/genética , Cromatografía Liquida/métodos , Humanos , Células MCF-7 , Proteómica/métodos , Espectrometría de Masas en Tándem/métodos , Transcripción Genética , Células U937
8.
CNS Neurol Disord Drug Targets ; 22(5): 736-744, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-35440326

RESUMEN

Alzheimer's disease (AD) is a neurodegenerative disease that involves several impaired neuronal pathways. Modulating the amyloid-beta (ß-amyloid) system is being tested to treat AD. Amyloid-beta neurotoxicity is associated with neuroinflammation and plaque formation, further progressing to AD. Protecting neurons from ß-amyloid neurotoxicity could be an efficient strategy for the treatment of AD. Thymoquinone (TQ) is an active ingredient in Nigella sativa (NS) and has shown effective therapeutic properties in AD models. TQ was able to attenuate the behavioral dysfunctions in AD models. Moreover, TQ could attenuate the neuroinflammation properties in animals with AD. In addition, studies have shown that TQ could modulate ß -amyloid neurotoxicity, an effect associated with improved AD behavioral symptoms. In this review, we highlighted the therapeutic effects of TQ on the progression of AD through modulating ß-amyloid neurotoxicity and neuro-inflammatory cytokine levels. Other phenolic compounds also present in NS improved behavioral and neuronal impairments in AD models, supporting TQ's anti-Alzhiemer's efficacy.


Asunto(s)
Enfermedad de Alzheimer , Enfermedades Neurodegenerativas , Animales , Enfermedad de Alzheimer/tratamiento farmacológico , Citocinas , Enfermedades Neuroinflamatorias , Péptidos beta-Amiloides/toxicidad
9.
Insects ; 14(5)2023 May 16.
Artículo en Inglés | MEDLINE | ID: mdl-37233095

RESUMEN

Mosquito vectors captured at a crime scene are forensically valuable since they feed on human blood, and hence, human DNA can be recovered to help identify the victim and/or the suspect. This study investigated the validity of obtaining the human short tandem repeats (STRs) profile from mixed blood meals of the mosquito, Culex pipiens L. (Diptera, Culicidae). Thus, mosquitoes were membrane-feed on blood from six different sources: a human male, a human female, mixed human male-female blood, mixed human male-mouse blood, mixed human female-mouse blood, and mixed human male-female-mouse blood. DNA was extracted from mosquito blood meals at 2 h intervals up to 72 h post-feeding to amplify 24 human STRs. Data showed that full DNA profiles could be obtained for up to 12 h post-feeding, regardless of the type of blood meal. Complete and partial DNA profiles were obtained up to 24 h and 36 h post-feeding, respectively. The frequencies of STR loci decreased over time after feeding on mixed blood until they became weakly detectable at 48 h post-feeding. This may indicate that a blood meal of human blood mixed with animal blood would contribute to maximizing DNA degradation and thus affects STR identification beyond 36 h post-feeding. These results confirm the feasibility of human DNA identification from mosquito blood meals, even if it is mixed with other types of non-human blood, for up to 36 h post-feeding. Therefore, blood-fed mosquitoes found at the crime scene are forensically valuable, as it is possible to obtain intact genetic profiles from their blood meals to identify a victim, a potential offender, and/or exclude a suspect.

10.
Toxics ; 11(10)2023 Sep 30.
Artículo en Inglés | MEDLINE | ID: mdl-37888677

RESUMEN

This study investigated the effect of Rosmarinus officinalis L. (RO) extract on neurobehavioral and neurobiological changes in male rats with pentylenetetrazol (PTZ)-induced epilepsy. Rats were assigned into five groups: (1) control rats, (2) RO-treated rats, (3) PTZ-treated rats, (4) PTZ + RO-treated rats, and (5) PTZ + valproic acid (VA)-treated rats. The PTZ-treated rats required a significantly longer time and distance to find the platform in the Morris water maze test than the control and RO-treated rats. Additionally, PTZ-treated rats showed a decrease in tendency to cross over the platform compared to PTZ group. PTZ + RO-treated rats showed decreased swimming time and distance to find the platform compared to PTZ group. PTZ + RO-treated rats showed a significant decrease in seizure score, a reduced number of myoclonic jerks, and an increased onset of the first myoclonic jerk compared to PTZ group. PTZ reduced the time required to enter the dark room in the passive avoidance learning test, which was reversed by RO treatment. Biochemical results revealed that PTZ-treated rats had higher levels of oxidative stress markers. RO significantly increased the antioxidant markers levels and maintained normal rat brain histology. This study revealed that RO can shield the brain and neural tissues from PTZ.

11.
Forensic Sci Int ; 350: 111684, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37536076

RESUMEN

This study aimed to identify the DNA STR profiles that were obtained from the lips with various lip cosmetics involved in lip pencil, lipsticks and lip gloss for a brand - Makeup Forever and lip balms (Labello brand) - have been popularly used by Saudi women at KSA. The study was involved 35 unrelated participants (healthy female donors) aged between 26 and 32. The swabbing of lip cosmetics was done prior to using them as negative control samples, other sterilized swabs were collected from the used lip cosmetics which contained the lip cells for each participant as a study sample. Moreover, the buccal swabs were firmly collected from the cleaned oral cavities for the same donors as reference samples. The air-drying of the collected swabs was done for ten minutes at room temperature and then stored them at - 20 °C before the DNA analysis. The 7500 Real-Time PCR (qRT-PCR) was quantified the extracted DNA. The amplification of 16 STR loci was done using the AmpFlSTR® Identifiler® PCR amplification kit using the Thermocycler ABI 9700 to amplify the extracted DNA. The Applied Bio-systems 3130™ Genetic Analyzer with Gene Mapper® ID-X Software v3.5 was used to analyze the PCR products. The data for quantifying DNA recorded significant decrease in the concentrations of DNA samples ranged from 0.15 to 0.55 ng/µL in comparison to the reference samples, while DNA was not detected in all the negative control samples. Some STR loci showed considerably high inhibition and low heterozygosity loss in the study samples compared to the reference and negative samples. The possibility of extracting DNA samples from lip cosmetics were used in the present study could be useful and successful in some cases due to the effect of the chemical compositions such as heavy pigments, organic components, and aromatic wax on the STR profiles in the lip cosmetics, especially in the lipsticks, lip glosses and lip pencils.


Asunto(s)
Cosméticos , Labio , Humanos , Femenino , Adulto , Arabia Saudita , Dermatoglifia del ADN , Repeticiones de Microsatélite , Reacción en Cadena en Tiempo Real de la Polimerasa , ADN
12.
Pathol Res Pract ; 248: 154578, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37320865

RESUMEN

Triple-negative breast cancer (TNBC) seriously affects woman's health. The present work is to study the working mechanism of lncRNA SNHG11 in TNBC. The expressions of SNHG11, microRNA (miR)- 7-5p, specificity protein 2 (SP2) and mucin 1 (MUC-1) in TNBC tissues and cells were detected. SNHG11, miR-7-5p and SP2 expressions were then evaluated for TNBC cell malignant behaviors. The relationships among SNHG11, miR-7-5p and SP2 were predicted and verified. Finally, the binding of the transcription factor SP2 to MUC-1 promoter was detected. Abnormally elevated SNHG11, SP2 and MUC-1 expressions were observed in cultured TNBC cells and tumor tissues. SNHG11 knockdown in TNBC cells. Silencing SP2 weakened the promoting effect of SNHG11 on TNBC progression. SNHG11 negatively regulated miR-7-5p expression and positively regulated SP2 expression. SP2 bound to the P2 site of MUC-1 promoter, and SP2 knockdown suppressed MUC-1 expression. It was demonstrated that lncRNA SNHG11 promoted TNBC cell malignant behaviors to facilitate TNBC progression. The study is first of its kinds to unravel the potential of lncRNA SNHG11 in relation to TNBC.


Asunto(s)
MicroARNs , ARN Largo no Codificante , Neoplasias de la Mama Triple Negativas , Femenino , Humanos , ARN Largo no Codificante/genética , ARN Largo no Codificante/metabolismo , Neoplasias de la Mama Triple Negativas/patología , Línea Celular Tumoral , MicroARNs/genética , MicroARNs/metabolismo , Proliferación Celular/genética , Regulación Neoplásica de la Expresión Génica/genética
13.
Forensic Sci Int ; 343: 111562, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36657183

RESUMEN

This research explores DNA consistency and attempts to detect STR profiles from the degrading menstrual blood samples (MBS) as reliable forensic evidence. Peripheral (PBS) and MBS of 30 healthy fertile females were taken on the menstrual cycle's second day. They were obtained at different time periods (0, 2, 4, 6, 8, 10, 12, 14, 16, 18, 20, 24, and 48 h) at 25 °C. DNA evaluation was fulfilled to analyze DNA profiles. A considerable elevation in the median concentrations of DNA between 0 and 14-h intervals were documented, whereas decreased extents were registered between 16 and 48 h. Moreover, complete STR profiles (24/24) for DNA were discovered in all the intervals (0, 2, and 48 h). Periods of 0-8 h demonstrated the maximum extents of DNA materials. Full STR were discovered in all the intervals (0, 2, and 48 h). Eventually, MBS can be utilized as forensic evidence.


Asunto(s)
Dermatoglifia del ADN , Repeticiones de Microsatélite , Femenino , Humanos , ADN/genética
14.
J Appl Genet ; 64(4): 749-758, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37656292

RESUMEN

Lifestyle factors, including smoking, have been linked to neoplastic diseases, and reports suggest an association between smoking and overexpression of FGFR (fibroblast growth factor receptor) in certain neoplasms. This study aims to assess the expression of FGFR3 and FGFR4 genes in patients with and without a history of smoking.A total of 118 participants were recruited, including 83 Juvenile Nasopharyngeal Angiofibroma (JNA) patients and 35 healthy participants, the JNA patients were further stratified as smokers and nonsmokers. Total RNA was extracted from the blood & saliva sample by using TRIzol reagent, and quantified using a Nanodrop, and then subjected to gene expression analysis of FGFR3/4 using RT-PCR. Immunohistochemistry analysis was employed using fresh biopsies of JNA to validate the findings. All experiments were performed in triplicates and analysed using the Chi-Square test (P < 0.05). Smokers exhibited significantly lower total RNA concentrations across all sample types (P < 0.001). The study revealed significant upregulation of both FGFR3/4 genes in JNA patients (P < 0.05). Moreover, FGFR3 expression was significantly higher among smokers 66% (95% CI: 53-79%) compared to non-smokers 22% (95% CI: 18-26%). Immunohistochemistry analysis demonstrated moderate to strong staining intensity for FGFR3 among smokers. The study highlights the overexpression of FGFR3/4 genes in JNA patients, with a stronger association observed among smokers. Furthermore, medical reports indicated higher rates of recurrence and bleeding intensity among smokers. These findings emphasize the potential role of FGFR3 as a key molecular factor in JNA, particularly in the context of smoking.


Asunto(s)
Angiofibroma , Neoplasias Nasofaríngeas , Humanos , Angiofibroma/genética , Angiofibroma/metabolismo , Angiofibroma/patología , Neoplasias Nasofaríngeas/genética , Neoplasias Nasofaríngeas/metabolismo , Neoplasias Nasofaríngeas/patología , Inmunohistoquímica , Fumar/genética , ARN , Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos/genética , Receptor Tipo 4 de Factor de Crecimiento de Fibroblastos/genética
15.
Genes (Basel) ; 13(3)2022 03 17.
Artículo en Inglés | MEDLINE | ID: mdl-35328085

RESUMEN

Gypsies are a separate ethnic group living in Pakistan and some other countries as well. They are mostly known as 'Roma' and 'untouchables'. They have different types of lifestyles as compared to other common people, as they always keep migrating from one place to another. They do not have proper houses; they live in tent houses and most probably work on daily wages to earn their living. Gypsies cannot be specified according to the place of residence and can only be classified according to their migration route. Previous historical and linguistic research showed the north Indian origin of Roma people. The present study collected 285 unrelated Roma individuals living in Punjab and typed with the Goldeneye Y20 system. Allelic frequencies ranged between 0.0035 and 0.5266, with haplotype diversity (HD) of 0.9999 and discrimination capacity (DC) of 0.8790. Gene diversity (GD) ranged from 0.6489 (DYS391) to 0.9764 (DYS391) (DY385ab). A total of 223 unique alleles were observed. Interestingly, the haplogroup R accounted for 40.56% and J for 22.06%. In MDS analysis, Pakistani Roma formed a close cluster with Roma from Constanta, Romania. The migration pattern of the Roma population from Pakistan, India and Europe was inferred using coalescence theory in the Migrate-n program. Overlapping Y-STR data were used to test different migration models. These migration models showed us the dominant gene flow from Pakistan to India and Europe to Pakistan. The results of our study showed that Y STRs provided substantially stronger discriminatory power in the Pakistani Roma population.


Asunto(s)
Cromosomas Humanos Y , Romaní , Cromosomas Humanos Y/genética , Etnicidad/genética , Frecuencia de los Genes , Haplotipos , Humanos , Masculino , Pakistán , Romaní/genética
16.
PLoS One ; 17(8): e0271769, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35926061

RESUMEN

Tibetans are considered an East Asian ethnic group and primarily live in the high Tibetan plateau, the western Sichuan and Yunnan mountains of central and southern China, and areas throughout the Himalayas and around the Tibetan plateau. These people exhibit rare molecular machinery that allows them to adapt to hypoxic environments in the Qinghai-Tibet Plateau and make them a potential candidate for providing insights related to medical genetic, molecular medicine and human population studies. In the current study, we have genotyped 549 individuals with Investigator Argus X-12 Kit. For 12 X-STRs, a total of 174 unique alleles were found, among them DXS10134 and DXS10135 were the most polymorphic loci. All of the loci were in Hardy-Weinberg Equilibrium (HWE). The numbers of observed haplotypes in Highlander Tibetans males were 161,112, 96 and 108, respectively, whereas haplotype diversities (HD) were 0.9959, 0.9880, 0.9809 and 0.9873, respectively. The combined discrimination power for males (PDm) was 0.999 999 99701 and for females (PDf) was 0.999 999 999 999 9958. This study represents an extensive report on X chromosomal STR markers variation in the Highlander Tibetans population for forensic applications and population genetic studies.


Asunto(s)
Genética de Población , Repeticiones de Microsatélite , China , Cromosomas Humanos X/genética , Femenino , Frecuencia de los Genes , Marcadores Genéticos , Haplotipos , Humanos , Masculino , Repeticiones de Microsatélite/genética , Tibet/epidemiología
17.
Genes (Basel) ; 13(8)2022 08 07.
Artículo en Inglés | MEDLINE | ID: mdl-36011314

RESUMEN

Y chromosome short tandem repeat polymorphisms (Y-STRs) are important in many areas of human genetics. Y chromosomal STRs, being normally utilized in the field of forensics, exhibit low haplotype diversity in consanguineous populations and fail to discriminate among male relatives from the same pedigree. Rapidly mutating Y-STRs (RM Y-STRs) have received much attention in the past decade. These 13 RM Y-STRs have high mutation rates (>10−2) and have considerably higher haplotype diversity and discrimination capacity than conventionally used Y-STRs, showing remarkable power when it comes to differentiation in paternal lineages in endogamous populations. Previously, we analyzed two to four generations of 99 pedigrees with 1568 pairs of men covering one to six meioses from all over Pakistan and 216 male relatives from 18 deep-rooted endogamous Sindhi pedigrees covering one to seven meioses. Here, we present 861 pairs of men from 62 endogamous pedigrees covering one to six meioses from the Punjabi population of Punjab, Pakistan. Mutations were frequently observed at DYF399 and DYF403, while no mutation was observed at DYS526a/b. The rate of differentiation ranged from 29.70% (first meiosis) to 80.95% (fifth meiosis), while overall (first to sixth meiosis) differentiation was 59.46%. Combining previously published data with newly generated data, the overall differentiation rate was 38.79% based on 5176 pairs of men related by 1−20 meioses, while Yfiler differentiation was 9.24% based on 3864 pairs. Using father−son pair data from the present and previous studies, we also provide updated RM Y-STR mutation rates.


Asunto(s)
Cromosomas Humanos Y , Tasa de Mutación , Cromosomas Humanos Y/genética , Humanos , Masculino , Repeticiones de Microsatélite/genética , Pakistán , Linaje
18.
Vaccines (Basel) ; 9(3)2021 Mar 18.
Artículo en Inglés | MEDLINE | ID: mdl-33803704

RESUMEN

SARS-CoV-2 (or simply COVID-19) remains to be a global pandemic issue affecting millions, thus urging the world's scientific community to develop efficient vaccine and design adequate measures of disease control. Currently, the most economically viable solution to infections and viruses is vaccination, despite the possible concerns about side effects from implementing quickly developed vaccine. The current commentary intends to explain the health and safety related to COVID-19 vaccines via a prism of global health safety. Scientists across the globe, along with companies from both public and private sectors, have predictably arranged cooperative programs to learn about COVID-19, along with taking simultaneous steps on devising vaccine and preparing effective treatments plans. Presently, several clinical trials to approve the efficiency of proposed vaccine solutions have been made successfully. Global health safety concerns on vaccine's efficiency such as high costs of production, provision of vaccine to developing countries, and its influence on the global economy are addressed. This commentary reflects on current efforts related to the development of vaccine against COVID-19, which currently affects the global health status and economy. In addition, the commentary aims at addressing potential risks related to the development of COVID-19 vaccine from the global health safety perspective.

19.
Asian Pac J Cancer Prev ; 22(9): 2797-2806, 2021 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-34582648

RESUMEN

BACKGROUND: In forensic science, there are cases when the only available provider of biological data is samples of malignant tissues. It can be useful in identification and/or paternity tests. Still, such samples have ambiguities because of microsatellite instability (MSI) and loss of heterozygosity (LOH) effects, being often related to neoplasia. METHODS: This research evaluates 16 autosomal short tandem repeat (STR) loci (traditional in forensic investigations) to get genetic data. MSI and LOH were estimated in DNA patterns derived from 73 Saudi respondents (30 healthy individuals and 43 persons with diagnosed colorectal cancer (CRC). Upon deriving DNA from blood, CRC specimens were obtained in both groups, along with the adjoining normal non-cancerous tissues (N-CRC). All specimens and 16 loci (15 STR loci and Amelogenin) were evaluated. Moreover, both colorectal samples were histologically analyzed utilizing HandE staining. RESULTS: Findings revealed non-essential variability in genetic information because of MSI and/or LOH. In CRC, mutations rates were 0.42% (MSI) and 1.62% (LOH). In N-CRC, mutation rates were 0.00% (MSI) and 0.59% (LOH). Further, LOH-related deviations were recorded in 5 loci out of 16. MSI-related deviations were recorded in 4 out of 16 loci, being present in CRC samples only. Genetic deviations within the marker loci might inform about false homozygosity/heterozygosity. Similarly, false gender might come from improper interpretation of DNA profiles. Finally, histopathological trials showed considerable histopathological alterations contrasted to N-CRC. CONCLUSION: This study is unique in demonstrating the application of 16 autosomal STRs from CRC samples and their comparison with the adjoining N-CRCs in Saudi participants, contributing to the field of forensic science. The experiment revealed no considerable distinctions, while showing that cancer tissues might display MSI and LOH effects that might challenge data interpretation, if STRs are to be applied in the forensic investigation.


Asunto(s)
Neoplasias Colorrectales/genética , Neoplasias Colorrectales/patología , Patologia Forense , Sitios Genéticos , Repeticiones de Microsatélite/genética , ADN/análisis , Humanos , Pérdida de Heterocigocidad , Inestabilidad de Microsatélites , Arabia Saudita
20.
Asian Pac J Cancer Prev ; 22(9): 2959-2967, 2021 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-34582668

RESUMEN

Marjoram plants have varied pharmacological properties because they contain antioxidants. In the present study, to evaluate the effect of Origanum majorana, gathered from Abha, Saudi Arabia, on the growth of human breast cancer cells using MCF7. Fresh aerial parts from Origanum majorana were extracted at a low temperature (0 ℃/6 hours). Human MCF7 breast cancer cells were then treated with 4 separate fluctuated concentrations of 0, 50, 150, 200 and 350 µg/mL for 24 and 48 hours. The findings showed that Origanum majorana aqueous extract contained absolute phenolic content (TPC) was 58.24 mg equivalent/g DW, and the complete flavonoid content (TFC) 35.31 mg GAE equivalent/g DW in the Origanum majorana aqueous extract. The endurance of MCF7 cells after incubation with aqueous extract diminished, indicating that Origanum majorana is tumour cell selective. Origanum majorana extract increased the mRNA Expression of Apoptotic Genes in MCF7. Majorana aqueous extract expanded the activity of Caspase-7 action specifically at higher concentrations, 150, 200, and 350 µg/ml. Our findings indicate that Origanum majorana could induce apoptosis of human breast cancer cells. This is the first study that provides a basis for the use of aqueous Origanum majorana extracted at low temperature (0 °C/6 hours) as more effective anticancer treatment.


Asunto(s)
Apoptosis/efectos de los fármacos , Neoplasias de la Mama/tratamiento farmacológico , Frío , Dinámicas Mitocondriales/efectos de los fármacos , Origanum , Extractos Vegetales/farmacología , Línea Celular Tumoral , Femenino , Humanos , Células MCF-7 , Fitoterapia , Arabia Saudita
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