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1.
Mol Genet Genomic Med ; 8(3): e1149, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31989793

RESUMO

BACKGROUND: Dalian is a city formed in the 1880s in Liaoning province, Northeastern China with a population of 6.69 million now. Han is the largest ethnic group not only across Mainland China (92%) and Taiwan (97%) but also considered to be the largest ethnic group of the world contributing to above 18% of world's population. METHODS: In the current study, we genotyped Goldeneye® 20Y System loci in 879 unrelated male individuals from the Han ethnic group in Dalian city and calculated the forensic parameters of the 20 Y-STR loci. RESULTS: In total, we observed 855 haplotypes, among which 835 (94.99%) were unique. The discrimination capacity (DC) of overall Goldeneye® 20Y System is 97.27% and it slightly reduces to 96.93% when only Y-filer® set of 17 Y-STRs were used, which mitigates using the extended set of markers in this population. We found DYS388 showed the lowest gene diversity (0.5151), whereas DYS389II showed the highest gene diversity (0.7621) in single copy Y-STR, and DYS385 showed the highest gene diversity (0.9683) among all. CONCLUSION: Multidimensional scaling (MDS) analysis based upon pairwise Rst genetic distance showed difference among Han population from the east to the west and from the north to the south. We also predicted haplogroups using Y-STR haplotypes, which showed the dominance of Haplogroup O (65.2%) followed by Haplogroup C (14.5%) in Dalian Han population. Moreover, we found 10 individuals showed a null allele at the DYS448 in our samples. We also performed linear discriminatory analysis (LDA) between Han and other prominent Chinese minority ethnic groups. We presented Y-STRs data in the Y-Chromosome Haplotype Reference Database (YHRD) for the future forensic and other usage.

2.
Mol Genet Genomics ; 295(1): 221-231, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31641857

RESUMO

The Xinjiang Uyghur Autonomous Region of China (XUARC) with 47 ethnic groups is a very colorful ethnic region of China, harboring abundant genetic and cultural diversity. The Kazakhs are the third largest ethnic group (7.02%) after Uyghur (46.42%) and Han (38.99%) in Xinjiang, but their genetic diversity and forensic characterization are poorly understood. In the current study, we genotyped 15 autosomal short tandem repeat (STR) loci and ten Y-STRs in 889 individuals (659 male and 230 female) collected from Kazak population of the Ili Kazak Autonomous Prefecture using AGCU Expressmarker 16 and 10Y-STR Kit (EX16 + 10Y). For autosomal STRs, we observed a total of 174 different alleles ranging from 6 to 34.2 repeat units and FGA showed the greatest power of discrimination (20 alleles) in Ili Kazakh population. We have not observed departures from Hardy-Weinberg equilibrium (HWE) after sequential Bonferroni correction and only found a minimal departure from linkage equilibrium (LE) for a very small number of pairwise combinations of loci. The combined power of exclusion (CPE) was 0.99999998395 and combined power of discrimination (CPD) was 99.999999999999999798%. For Y-STRs, we observed a total of 496 different haplotypes in these ten Y-STR loci. The gene diversities ranged from 0.5023 (DYS391) to 0.8357 (DYS385a/b). The overall haplotype diversity (GD) was 0.9985 with random matching probability (RMP) of 0.0015. The results of population genetic analysis based on both autosomal and Y-chromosome STRs demonstrated that the genetic affinity among populations is generally consistent with ethnic, linguistic, and continental geographical classifications.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Cromossomos/genética , Polimorfismo Genético/genética , Alelos , Feminino , Frequência do Gene/genética , Testes Genéticos/métodos , Genética Populacional/métodos , Haplótipos/genética , Humanos , Masculino , Repetições de Microssatélites/genética , Filogenia
3.
Int J Immunogenet ; 2019 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-31657139

RESUMO

Genetic structure of a population can be influenced by evolutionary processes and cultural histories which can alter the frequencies of different variants at particular genetic markers. These characteristics make DNA evidence suitable for forensic applications. Little relevant data are available from the interior Sindhi population; thus, in the current study, we have investigated 15 autosomal STRs in 181 unrelated individuals belonging to the interior parts of Sindh Pakistan, to establish its lineage and parameters of forensic interest. These STRs revealed a high power of discrimination (CPD), power of exclusion (CPE) and matching probability (CMP) are 0.9999999999999999968997, 0.99998612 and 3.1003 × 10-18 respectively. The genetic distances, neighbour-joining (NJ) tree, interactivity test and principal component analysis (PCA) based on 15 autosomal STR loci showed that the interior Sindhi population had a closer genetic relationship with Pakistani populations and distant relationships with regional (India and Afghanistan) populations. The present findings exhibited that STRs included in AmpFLSTR Identifiler kit (Applied Biosystems) are genetically polymorphic in the interior Sindhi population of Pakistan. This study provides valuable population genetic data for the genetic information study, forensic human individual identification and paternity testing.

4.
Mol Genet Genomic Med ; 7(5): e652, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30908890

RESUMO

BACKGROUND: This study investigated the effects of haplotypes T-G and C-A derived from NG_012836.1:g.4160T>C and NG_012836.1:g.4326G>A on protein expression levels in vitro and identified the functional sequence in the regulatory region of the GABRB3 gene linked to possible associations with schizophrenia. METHODS: Recombinant plasmids with haplotypes T-G and C-A and 10 recombinant vectors containing deletion fragments from the GABRB3 gene 5' regulatory region were transfected into HEK-293, SK-N-SH, and SH-SY5Y cells. The relative fluorescence intensity of the two haplotypes and different sequences was compared using a dual luciferase reporter assay system. RESULTS: The relative fluorescence intensity of haplotype C-A was significantly lower than that of T-G. We shortened the core promoter sequence of the GABRB3 gene 5' regulation region from -177 bp to -18 bp (ATG+1). We also found an expression suppression region from -1,735 bp to -1,638 bp and an enhanced regulatory region from -1,638 bp to -1,335 bp. Multiple inhibitory functional elements were identified in the region from -680 bp to -177 bp. CONCLUSION: We demonstrated that haplotype C-A might increase the risk of schizophrenia and found multiple regulatory regions that had an effect on GABRB3 receptor expression.


Assuntos
Receptores de GABA-A/genética , Esquizofrenia/genética , Região 5'-Flanqueadora , Linhagem Celular Tumoral , Células HEK293 , Haplótipos , Humanos , Regiões Promotoras Genéticas , Receptores de GABA-A/metabolismo
5.
Electrophoresis ; 40(11): 1591-1599, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30740746

RESUMO

Semi-nested PCR with allele-specific (AS) primers and sequencing of mitochondrial DNA (mtDNA) were performed to analyze and interpret DNA mixtures, especially when biological materials were degraded or contained a limited amount of DNA. SNP-STR markers were available to identify the minor DNA component using AS-PCR; moreover, SNPs in mtDNA could be used when the degraded or limited amounts of DNA mixtures were not successful with SNP-STR markers. Five pairs of allele-specific primers were designed based on three SNPs (G15043A, T16362C, and T16519C). The sequence of mtDNA control region of minor components was obtained using AS-PCR and sequencing. Sequences of the amplification fragments were aligned and compared with the sequences of known suspects or databases. When this assay was used with the T16362C and T16519C SNPs, we found it to be highly sensitive for detecting small amounts of DNA (∼30 pg) and analyzing DNA mixtures of two contributors, even at an approximately 1‰ ratio of minor and major components. An exception was tests based on the SNP G15043A, which required approximately 300 pg of a 1% DNA mixture. In simulated three contributor DNA mixtures (at rate of 1:1:1), control region fragments from each contributor were detected and interpreted. AS-PCR combined with semi-nested PCR was successfully used to identify the mtDNA control region of each contributor, providing biological evidence for excluding suspects in forensic cases, especially when biological materials were degraded or had a limited amount of DNA.


Assuntos
DNA Mitocondrial/genética , DNA/análise , Reação em Cadeia da Polimerase/métodos , Alelos , Primers do DNA , Genética Forense/métodos , Humanos , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA
6.
BMC Med Genet ; 20(1): 26, 2019 01 31.
Artigo em Inglês | MEDLINE | ID: mdl-30704411

RESUMO

BACKGROUND: Schizophrenia is a severe neurodevelopmental disorder with a complex genetic and environmental etiology. Abnormal glutamate ionotropic N-methyl-D-aspartate receptor (NMDA) type subunit 1 (NR1) may be a potential cause of schizophrenia. METHODS: We conducted a case-control study to investigate the association between the GRIN1 gene, which encodes the NR1 subunit, and the risk of schizophrenia in a northern Chinese Han population using Sanger DNA sequencing. The dual luciferase reporter assay was used to detect the influence of two different haplotypes on GRIN1 gene expression. RESULTS: Seven SNPs (single nucleotide polymorphisms), including rs112421622 (- 2019 T/C), rs138961287 (- 1962--1961insT), rs117783907 (-1945G/T), rs181682830 (-1934G/A), rs7032504 (-1742C/T), rs144123109 (-1140G/A), and rs11146020 (-855G/C) were detected in the study population. Rs117783907 (-1945G/T) was associated with the occurrence of schizophrenia as a protective factor. The genotype frequencies of rs138961287 (- 1962--1961insT) and rs11146020 (-855G/C) were statistically different between cases and controls (p < 0.0083). The other four variations were not shown to be associated with the disease. Two haplotypes were composed of the seven SNPs, and distribution of T-del-G-G-C-G-G was significantly different between the case and control groups. However, the dual luciferase reporter assay showed that neither of the haplotypes affected luciferase expression in HEK-293 and SK-N-SH cell lines. CONCLUSIONS: The GRIN1 gene may be related to the occurrence of schizophrenia. Additional research will be needed to fully ascertain the role of GRIN1 in the etiology of schizophrenia.


Assuntos
Grupo com Ancestrais do Continente Asiático/etnologia , Proteínas do Tecido Nervoso/genética , Polimorfismo de Nucleotídeo Único , Receptores de N-Metil-D-Aspartato/genética , Esquizofrenia/genética , Análise de Sequência de DNA/métodos , Adulto , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Células HEK293 , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Elementos Reguladores de Transcrição , Esquizofrenia/etnologia
7.
Brain Behav ; 9(2): e01193, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30657260

RESUMO

BACKGROUND: Epidemiological studies found that genetic factors are among the causes of schizophrenia, exclusively the genes involved in the dopamine system. Prior to this, the role of dopamine receptor D2 (DRD2) gene promoter polymorphisms and schizophrenia has been studied extensively, but there are still some uncertainties about these associations. The present study is focusing on the association between the DRD2 gene promoter region polymorphisms and schizophrenia in the northern Chinese Han population. METHODS: We sequenced 2,111-bp fragment of DRD2 gene promoter region in 306 schizophrenic patients and 324 healthy controls to find association between DRD2 and schizophrenia. SPSS version 18 0.0 was used to calculate odds ratios (OR), 95% confidence intervals (CIs).The Hardy-Weinberg equilibrium test and the confirmation of haplotypes were calculated using Haploview version 4.1. The association of schizophrenic risk of DRD2 genotypes, alleles, and haplotypes between case and control groups was calculated using the chi-squared test. PS program was used to calculate the Power analysis. RESULTS: The genotype frequencies of rs7116768 (p = 0.025) and rs1799732 (p = 0.042) were associated meagerly. After Bonferroni correction, there was no association found between DRD2 gene promoter region with schizophrenia risk in the northern Chinese Han population. CONCLUSIONS: In this study, we did not find any significant difference between schizophrenia and the polymorphisms of DRD2 gene promoter region. A more forceful conclusion remains to be verified by further confirmatory experiments.


Assuntos
Receptores de Dopamina D2/genética , Esquizofrenia , Adulto , Alelos , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , China/epidemiologia , Correlação de Dados , Dopamina/metabolismo , Feminino , Genótipo , Haplótipos , Humanos , Masculino , Polimorfismo Genético , Regiões Promotoras Genéticas , Esquizofrenia/epidemiologia , Esquizofrenia/genética
8.
Ann Hum Genet ; 83(3): 134-140, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30506867

RESUMO

BACKGROUND: China harbors 56 ethnic groups, including Korean, with a population size of approximately 1.92 million at the 2010 census. Most of the Koreans live in Northeastern parts of China, including Jilin (59.64%), Heilongjiang (20.21%), and Liaoning (12.55%) provinces, and the rest are spread to other parts of China. Koreans across China share a common culture, which is similar to Korea. METHODS: We have explored the genetic characteristics of 20 Y-chromosomal short tandem repeat (Y-STR) loci in 252 unrelated Chinese Korean male individuals from Jilin Province, using a Goldeneye 20Y amplification kit. Moreover, phylogenetic analysis was performed between the Korean population and other relevant populations based on the Y-STR haplotypes. RESULTS: We have found 237 different haplotypes among 252 unrelated individuals. The haplotype frequencies ranged from 0.0238 to 0.0040, while gene diversity ranged from 0.9666 (DYS385a/b) to 0.2260 (DYS391). The random match probability was 0.0048, the haplotype diversity was 0.9992 ± 0.0006 and discrimination capacity was 0.9405. Population comparison revealed that Korean populations are lining up together with other Korean populations from East Asia. CONCLUSION: Our results showed that the 20 Y-STR loci in the Yanbian Korean population are valuable for forensic application and human genetics. The Yanbian Koreans have lined up with other Korean population from China and Korea while showing significant differences from other East Asian populations.


Assuntos
Cromossomos Humanos Y/genética , Grupos Étnicos/genética , Genética Populacional , Grupo com Ancestrais do Continente Asiático/genética , China , Frequência do Gene , Haplótipos , Humanos , Masculino , Filogenia , República da Coreia/etnologia
9.
BMC Psychiatry ; 18(1): 303, 2018 09 19.
Artigo em Inglês | MEDLINE | ID: mdl-30231895

RESUMO

BACKGROUND: Schizophrenia is associated with multiple neurotransmitter disorders, including serotonin (5-hydroxytryptamine, 5-HT). The neuromodulatory action of serotonin on brain function largely depends on the action of specific subtypes of serotonin receptors. The serotonin receptor 1B (HTR1B) gene has been proposed to play putative roles in the development of multiple emotional and psychiatric disorders. METHODS: To study the relationship of HTR1B polymorphisms and schizophrenia, gene information was drawn from a cohort of 310 schizophrenic patients (152 men and 158 women) and 313 healthy controls (153 men and 160 women) of northern Han Chinese descent. The χ2 test was used to compare allele and genotype distributions between case and control groups. The haplotype and linkage equilibrium were also assessed in two group comparisons. RESULTS: We detected 14 SNPs. Male patients were observed to have higher frequencies of the A-allele and AA+AG genotype at rs1778258 than female patients (p = 0.012 and p = 0.015, respectively). Both the A-allele and AA+AG genotype were associated with schizophrenia risk (OR = 1.986 and OR = 2.061, respectively), although the statistical significance of the genotype was lost after Bonferroni correction. Linkage analysis showed that rs17273700, rs11568817, rs9361234 and rs58138557 polymorphisms exhibit strong linkage disequilibrium (LD). In addition, schizophrenic patients show stronger linkage between 11,568,817 and rs130058 than healthy controls. CONCLUSIONS: HTR1B polymorphisms are associated with schizophrenia in the northern Han Chinese population, which provides an etiological reference for schizophrenia.


Assuntos
Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Receptor 5-HT1B de Serotonina/genética , Esquizofrenia/genética , Adulto , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , China , Feminino , Marcadores Genéticos , Genótipo , Haplótipos , Humanos , Masculino
10.
J Mol Neurosci ; 64(1): 75-79, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29196882

RESUMO

The aim of this study was to explore whether schizophrenia occurrence is associated with polymorphisms in the 5' regulatory region of GABRB3 (gamma-aminobutyric acid type A receptor beta 3, subunit gene). The study included 324 patients with schizophrenia and 327 unaffected participants; all individuals were northern Han Chinese. Genotype and haplotype frequency distributions were compared for the 2 groups by means of PCR amplification and direct sequencing of the promoter region of GABRB3. The genotype distribution among control participants was in accordance with the Hardy-Weinberg equilibrium. Five common single-nucleotide polymorphism (SNP) sites were detected in the 5' promoter region of GABRB3: rs4243768, rs7171660, rs4363842, rs4906902, and rs8179184. Only rs8179184 and rs4906902 differed significantly in frequency between controls and cases (P < 0.05); this difference remained significant when only women in each group were compared. The 2 SNP sites showed linkage disequilibrium, resulting in 2 haplotypes: T-G and C-A. The frequency of C-A was significantly higher among patients with schizophrenia than among controls. Our findings suggest that rs4906902 and rs8179184 in the 5' promoter region of GABRB3 are associated with schizophrenia. The C-A haplotype may entail an increased risk of schizophrenia, and the onset of schizophrenia may be gender-specific.


Assuntos
Polimorfismo de Nucleotídeo Único , Receptores de GABA-A/genética , Esquizofrenia/genética , Feminino , Humanos , Desequilíbrio de Ligação , Masculino , Regiões Promotoras Genéticas
11.
Neuropsychiatr Dis Treat ; 13: 2855-2865, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29200860

RESUMO

Objective: Ser9Gly (rs6280) is a functional single-nucleotide polymorphism (SNP) in the dopamine receptor D3 (DRD3) gene that may be associated with schizophrenia. We performed a meta-analysis to determine whether Ser9Gly influences the risk of schizophrenia and examined the relationship between the Ser9Gly SNP and the etiology of schizophrenia. Methods: Case-control studies were retrieved from literature databases in accordance with established inclusion criteria. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to evaluate the strength of the association between Ser9Gly and schizophrenia. Subgroup analysis and sensitivity analysis were also performed. Results: Seventy-three studies comprising 10,634 patients with schizophrenia (cases) and 11,258 controls were included in this meta-analysis. Summary results indicated no association between Ser9Gly and risk of schizophrenia. In the dominant genetic model, the pooled OR using a random effects model was 0.950 (95% CI, 0.847-1.064; P=0.374). Conclusion: Results of this meta-analysis suggest that the Ser9Gly SNP is not associated with schizophrenia. These data provide possible avenues for future case-control studies related to schizophrenia.

12.
PLoS One ; 12(8): e0182769, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28846698

RESUMO

To determine whether mitochondrial DNA (mtDNA) variations are associated with schizophrenia, 313 patients with schizophrenia and 326 unaffected participants of the northern Chinese Han population were included in a prospective study. Single-nucleotide polymorphisms (SNPs) including C5178A, A10398G, G13708A, and C13928G were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Hypervariable regions I and II (HVSI and HVSII) were analyzed by sequencing. The results showed that the 4 SNPs and 11 haplotypes, composed of the 4 SNPs, did not differ significantly between patient and control groups. No significant association between haplogroups and the risk of schizophrenia was ascertained after Bonferroni correction. Drawing a conclusion, there was no evidence of an association between mtDNA (the 4 SNPs and the control region) and schizophrenia in the northern Chinese Han population.


Assuntos
DNA Mitocondrial/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Esquizofrenia/genética , Adulto , Grupo com Ancestrais do Continente Asiático/genética , China , Feminino , Estudos de Associação Genética , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade
14.
Mitochondrial DNA A DNA Mapp Seq Anal ; 28(3): 350-354, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-26714243

RESUMO

DNA sequences in the control region of mitochondrial DNA (mtDNA) were investigated in 206 unrelated individuals living in Huanjiang Maonan Autonomous County in the People's Republic of China. DNA was extracted from blood-stained filter papers. Hypervariable regions, including HVI and HVII, were amplified and sequenced and sequences aligned and compared with the revised Cambridge sequence (rCRS). One hundred and seventy-two polymorphic sites were identified that defined 170 haplotypes. Of these, 143 were unique and 27 were shared by more than one individual. Genetic diversity was estimated to be 0.9977 (± 0.0008), and the random match probability was 0.71%. The proportions of macro-haplogroups R*, M*, N*, D, U, R0, L3*, and L* were 50.49%, 26.21%, 11.17%, 3.88%, 3.88%, 2.43%, 1.46%, and 0.49%, respectively. Additionally, phylogenetic comparison and principal component analysis (PCA) demonstrated that Chinese Maonans shared a close genetic relationship with the Gelao ethnic community in Laos and China. These results may be useful in future human genetic studies and forensic examinations.


Assuntos
Grupos Étnicos/genética , Genoma Mitocondrial , Polimorfismo Genético , Sequência de Bases , China , Haplótipos , Humanos , Filogenia , Análise de Sequência de DNA
17.
Neurosci Lett ; 609: 120-3, 2015 Nov 16.
Artigo em Inglês | MEDLINE | ID: mdl-26484506

RESUMO

The role of dopamine D1 receptor (DRD1) gene promoter polymorphisms in schizophrenia remains controversial. We aimed to characterize the polymorphisms in the promoter region because little is known about the extent of variance in this region and potential roles in gene transcription activity. In a previous case-control study, we amplified and genotyped the polymorphisms of DRD1 gene. According to its haplotype estimation, we identified eight SNPs and confirmed ten different haplotypes by cloning and sequencing the fragment spanning -1990 to +10. The promoter activity of these haplotypes was analyzed using dual luciferase assays in SH-SY5Y and HEK293 cells. Compared with the reference haplotype, the constructed haplotypes containing different variation sites could significantly alter the luciferase activity. Additionally, the prediction of the transcription factor binding sites was performed. Our examination could provide the informative reference for the role of DRD1 gene promoter in schizophrenia.


Assuntos
Receptores de Dopamina D1/genética , Sequência de Bases , Sítios de Ligação , Estudos de Casos e Controles , Linhagem Celular , Haplótipos , Humanos , Dados de Sequência Molecular , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , Esquizofrenia/genética , Transcrição Genética
18.
Fa Yi Xue Za Zhi ; 29(2): 107-9, 2013 Apr.
Artigo em Chinês | MEDLINE | ID: mdl-23930503

RESUMO

OBJECTIVE: To investigate the single nucleotide polymorphisms (SNP) of -855 G/C and -1140 G/A in promoter regions of GRIN1 gene and find their genetic correlation to paranoid schizophrenia as well as their applicable values in forensic medicine. METHODS: The genetic polymorphisms of -855 G/C and -1140 G/A at the 5' end of GRIN1 gene were detected by PCR restriction fragment length polymorphism and PAGE in 183 healthy unrelated individuals of northern Chinese Han population and 172 patients of paranoid schizophrenia, respectively. The chi2 test was used to identify Hardy-Weinberg equilibrium of the genotype distribution. The differences of genotypes and allelic frequency distributions were compared between the two groups. RESULTS: Distributions of the genotypic frequencies satisfied Hardy-Weinberg equilibrium in both groups. The difference of genotypes was statistically significant between female patient group and female control group in -855 G/C distribution (P < 0.05). The differences of genotypes and allelic frequencies were statistically significant not only between the patient group and the control group but also between female patient group and female control group in -1140 G/A distribution (P < 0.05). CONCLUSION: The SNP of -1140 G/A in promoter regions of GRIN1 gene might positively correlate to paranoid schizophrenia. The genetic factor of schizophrenia is involved in gender tendency. And it could be useful in forensic identification of schizophrenia.


Assuntos
Proteínas do Tecido Nervoso/genética , Polimorfismo de Nucleotídeo Único , Receptores de N-Metil-D-Aspartato/genética , Esquizofrenia Paranoide/genética , Alelos , Grupo com Ancestrais do Continente Asiático/etnologia , Grupo com Ancestrais do Continente Asiático/genética , Sequência de Bases , Feminino , Frequência do Gene , Predisposição Genética para Doença/genética , Genótipo , Humanos , Masculino , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Regiões Promotoras Genéticas , Análise de Sequência de DNA
19.
Fa Yi Xue Za Zhi ; 29(2): 125-6, 2013 Apr.
Artigo em Chinês | MEDLINE | ID: mdl-23930508

RESUMO

OBJECTIVE: To explore the feasibility of improving the sensitivity of DNA detection by increasing the PCR cycle index and decreasing the volume of amplifying system. METHODS: The DNA of semen were collected from 10 healthy irrelevant volunteers, and were quantified to 50, 40, 30, 25, 20, 15, 10 pg/microL, separately. All samples were then amplified in 10, 5, 3 microL volume and at 28, 30, 32, 34, 36 cycles, respectively. 3130 genetic analyzer was used to detect 15 autosomal STR loci. RESULTS: Under the situation of 28 cycles and 3 microL volume, samples which achieved > 40 pg/microL could be correctly typed. Under the situation of 10, 5, 3 microL volume, samples which achieved > 20 pg/microL could be correctly typed at 34 cycles. When increasing the index to 36 cycles, they could not be correctly typed because of the non-specific band. CONCLUSION: DNA detecting sensitivity can be improved to a certain extent by increasing the cycle index and decreasing the volume of amplifying system.


Assuntos
Impressões Digitais de DNA/métodos , DNA/análise , Reação em Cadeia da Polimerase/métodos , Sêmen/química , Sequências de Repetição em Tandem , DNA/genética , Estudos de Viabilidade , Genética Forense/métodos , Humanos , Limite de Detecção , Masculino , Sensibilidade e Especificidade
20.
Fa Yi Xue Za Zhi ; 29(1): 21-4, 2013 Feb.
Artigo em Chinês | MEDLINE | ID: mdl-23646497

RESUMO

OBJECTIVE: To investigate the genetic polymorphism in the 5' and 3' region of TPH2 gene of Northern Chinese Han population and to explore its application value in forensic medicine. METHODS: The sequence variants and the genetic polymorphisms of 6 SNP loci (rs4570625, rs11178997, rs11178998, rs41317118, rs17110747 and rs41317114) within a 905 bp 5' flanking region and a 1,104bp 3' flanking region of TPH2 gene were analyzed by DNA sequencing in a total of 244 unrelated healthy individuals in Northern Chinese Han population. The statistical analysis was carried out by Haploview v4.2 software. RESULTS: The genotypic distributions of the 6 SNP loci in the TPH2 gene were in accordance with Hardy-Weinberg equilibrium. One C/T variant in 92922 site was found. There was a high linkage disequilibrium among the 3 SNP loci (rs4570625, rs11178997 and rs11178998) in the 5' region and the 3 SNP loci (rs41317118, rs17110747 and rs41317114) in the 3' region of TPH2 gene, respectively. The parameters of population genetics of 6 SNP loci were obtained. CONCLUSION: There are great polymorphisms in the 5' and 3' region of TPH2 gene in Northern Chinese Han population, which could be used as genetic indexes for association analysis of the related diseases, as well as for forensic individual identification and paternity testing.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Genética Populacional , Repetições de Microssatélites , Polimorfismo de Nucleotídeo Único , Triptofano Hidroxilase/genética , Regiões 3' não Traduzidas , Regiões 5' não Traduzidas , Grupo com Ancestrais do Continente Asiático/etnologia , China/etnologia , Genética Forense , Frequência do Gene , Genótipo , Humanos , Desequilíbrio de Ligação/genética , Reação em Cadeia da Polimerase
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