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1.
Mol Genet Genomic Med ; 7(10): e00934, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31478599

RESUMO

BACKGROUND: Profiling of mitochondrial DNA is surely to provide valuable investigative clues for forensic cases involving highly degraded specimens or complex maternal lineage kinship determination. But traditionally used hypervariable region sequencing of mitochondrial DNA is less frequently suggested by the forensic community for insufficient informativeness. Genome-wide sequencing of mitochondrial DNA can provide considerable amount of variant information but can be high cost at the same time. METHODS: Efficiency of the 60 mitochondrial DNA polymorphic sites dispersing across the control region and coding region of mitochondrial DNA genome was evaluated with 106 Mongolians recruited from the Xinjiang Uyghur Autonomous Region, China, and allele-specific PCR technique was employed for mitochondrial DNA typing. RESULTS: Altogether 58 haplotypes were observed and the haplotypic diversity, discrimination power and random match probability were calculated to be 0.981, 0.972, and 0.028, respectively. Mitochondrial DNA haplogroup affiliation exhibited an exceeding percentage (12.26%) of west Eurasian lineage (H haplogroup) in the studied Mongolian group, which needed to be further verified with more samples. Furthermore, the genetic relationships between the Xinjiang Mongolian group and the comparison populations were also investigated and the genetic affinity was discovered between the Xinjiang Mongolian group and the Xinjiang Kazak group in this study. CONCLUSION: It was indicated that the panel was potentially enough to be used as a supplementary tool for forensic applications. And the matrilineal genetic structure analyses based on mitochondrial DNA variants in the Xinjiang Mongolian group could be helpful for subsequent anthropological studies.

2.
Croat Med J ; 60(3): 191-200, 2019 Jun 13.
Artigo em Inglês | MEDLINE | ID: mdl-31187946

RESUMO

AIM: To determine allele frequencies and forensic statistics of 22 autosomal short tandem repeat loci in Chinese Mongolian population. METHODS: Blood specimens were collected from 134 unrelated healthy Mongolian individuals, and 22 short tandem repeat loci were co-amplified and genotyped. Allele frequencies and forensic parameters were calculated, and population genetic differences were analyzed among Mongolian population and other eight Chinese populations: Northern Han, Guangdong Han, Chengdu Han, Xinjiang Hui, Xinjiang Uygur, Hainan Li, Qinghai Tibetan, and Hainan Han. RESULTS: All the loci were in the Hardy-Weinberg equilibrium, and after Bonferroni correction there was no linkage disequilibrium between them. The allele frequencies of these 22 loci were between 0.0037 and 0.3657. This panel had high discriminating power and genetic polymorphism in the Mongolian population, with combined power of discrimination of 0.999999999999999999999999998399 and combined probability of exclusion of 0.9999999999566925. Structure analysis showed no evidence that these nine Chinese populations had different component distribution. However, genetic distance analysis showed significant differences among them (P<0.05). CONCLUSION: The combined application of these 22 loci could be useful for forensic purposes in the Mongolian population. Mongolian population had smaller genetic distances from the populations in northern China (Northern Han, Xinjiang Uygur, and Xinjiang Hui) than from the populations in Hainan province (Hainan Han and Hainan Li populations).


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Grupos Étnicos/genética , Repetições de Microssatélites , Polimorfismo Genético , China , Feminino , Genética Forense , Frequência do Gene , Loci Gênicos , Testes Genéticos , Genética Populacional , Genótipo , Humanos , Masculino
3.
J Hum Genet ; 64(6): 535-543, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30944401

RESUMO

Insertion and deletion markers (InDels) have gained considerable attentions in population genetics and forensic research. In this study, we investigated genetic distributions of 30 InDels in Gansu Yugur and Guizhou Miao groups and evaluated their forensic application values. Genetic relationship analyses between Gansu Yugur, Guizhou Miao groups and other published populations were conducted based on these 30 InDels. Power of discrimination and power of exclusion in trio and duo cases of 30 InDels ranged from 0.3528 to 0.6247, 0.0937 to 0.1873, and 0.0219 to 0.1247 in Gansu Yugur group; and they ranged from 0.2579 to 0.6247, 0.0671 to 0.1874, and 0.0105 to 0.1247 in Guizhou Miao group. Obtained cumulative power of discrimination values indicated these InDels could be used for forensic individual identifications in both ethnic groups. Principal component analysis and phylogenetic reconstruction revealed that Gansu Yugur and Guizhou Miao groups had close affinities with their neighboring populations. Genetic structure analyses among these populations also indicated that studied Gansu Yugur and Guizhou Miao groups showed similar genetic structure with their neighboring populations. Further analyses of Y-STR, mtDNA, and ancestry informative markers should be conducted to better understand genetic backgrounds of Gansu Yugur and Guizhou Miao groups in the future.


Assuntos
Cromossomos Humanos Y/genética , DNA Mitocondrial/genética , Genética Populacional , Mutação INDEL/genética , Alelos , Grupo com Ancestrais do Continente Asiático/genética , China , Grupos Étnicos/genética , Feminino , Ciências Forenses , Testes Genéticos , Variação Genética/genética , Genótipo , Haplótipos/genética , Humanos , Masculino
4.
Cell Prolif ; 52(3): e12586, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30997713

RESUMO

OBJECTIVES: This study aimed at investigating cellular uptake pathways of carbon dots (CDs) in human adenoid cystic carcinoma cell line ACC-2. MATERIALS AND METHODS: We synthesized CDs using a hydrothermal method with citric acid and polyethylenimine (PEI, Mw = 25 000). The CDs incubated with the ACC-2 cells showed their bioimaging capabilities using a confocal microscopy test. Flow cytometry was used to analyse cellular uptake pathways of CDs in ACC-2 cells. RESULTS: Our findings indicated that CDs possessed good biocompatibility in ACC-2 cells. CDs were endocytosed mainly via micropinocytosis and energy-dependent pathways. CONCLUSIONS: In general, these findings suggested that CDs had excellent biomedical imaging properties for ACC-2 cells and there was a potential opportunity to develop biomedical applications.


Assuntos
Carbono , Carcinoma Adenoide Cístico/fisiopatologia , Endocitose , Nanopartículas , Neoplasias das Glândulas Salivares/fisiopatologia , Transporte Biológico Ativo , Carcinoma Adenoide Cístico/diagnóstico por imagem , Linhagem Celular Tumoral , Humanos , Cinética , Microscopia Confocal , Neoplasias das Glândulas Salivares/diagnóstico por imagem
5.
Int J Legal Med ; 133(3): 733-743, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30820645

RESUMO

Prior to implementing a new kit into application, developmental validation should be conducted to demonstrate the robustness and applicability of the kit. In this study, 24 Y-STR loci from the AGCU Y SUPP STR kit were tested including 11 loci overlapping with other commercial kits (DYS385a/b, DYS635, DYS533, DYS481, DYS549, DYS460, DYS527a/b, DYS522, and DYS444) and 13 new loci (DYS531, DYS630, DYS622, DYS552, DYS510, DYS459a/b, DYS446, DYS443, DYS587, Y-GATA-A10, DYS520, and DYS557). Developmental validation including PCR-related studies, sensitivity, stability, and species specificity studies were conducted. The performance of the kit in genotyping case-type samples was also estimated. The results indicated that the kit is robust, accurate and sensitive and is able to detect male samples without being affected by female samples or other species. Population data were obtained with this kit in Chinese Xibe group as well. Totally 139 different haplotypes were obtained from 167 male samples and demonstrated that this typing system is relatively discriminative.


Assuntos
Cromossomos Humanos Y , Técnicas de Genotipagem/instrumentação , Repetições de Microssatélites , Animais , China , Impressões Digitais de DNA , Grupos Étnicos/genética , Feminino , Técnicas de Genotipagem/métodos , Humanos , Masculino , Reação em Cadeia da Polimerase , Especificidade da Espécie
6.
Electrophoresis ; 40(12-13): 1691-1698, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30916802

RESUMO

Insertion/deletion (InDel) polymorphisms have been widely used in the fields of population genetics, genetic map constructions, and forensic investigations owing to the advantages of their low mutation rates, widespread distributions in the human genome, and small amplicon sizes. In order to provide more InDels with high discrimination power in Chinese populations, we selected and constructed one novel multiplex PCR-InDel panel for forensic individual identification. Genetic distributions of these 35 InDels in five reference populations from East Asia showed low genetic differentiations among these populations. Forensic efficiency evaluations of these InDels revealed that these loci could perform well for forensic individual identifications in these reference populations. In the meantime, genetic diversities and forensic parameters of these InDels were further investigated in the studied Kazak group. Mean value of polymorphism information content for 35 InDels was 0.3611. Cumulative power of discrimination of 35 InDels was 0.99999999999999603 in Kazak group. Given these results, the panel is suitable for individual identifications in the studied Kazak and these reference populations.

7.
J Zhejiang Univ Sci B ; 20(3): 287-290, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30829016

RESUMO

To further enrich the genetic data of the Chinese Xinjiang Mongolian group, the genetic distribution and forensic parameters of 19 autosomal short tandem repeats (STRs) were investigated. Altogether, 249 alleles were observed in these 19 STRs. The mean values of the polymorphism information content (PIC), match probability (MP), discrimination power (DP), and probability of exclusion (PE) for these 19 STRs were 0.7775, 0.0699, 0.9301, and 0.6085, respectively. Additionally, the cumulative DP and PE values obtained in the Mongolian group were 0.999 999 999 999 999 999 999 995 67 and 0.999 999 992 163, respectively. Furthermore, population genetic analysis of the Mongolian group and 20 published populations was conducted based on the population data of 15 overlapping STRs. Genetic distances indicated that the Mongolian group had closer genetic similarities with the Uyghur, Xibe, and other Chinese populations rather than the other continental populations. Multidimensional scaling analysis further revealed that the Mongolian group possessed similar genetic distributions as most Chinese populations. To sum it all up, these STRs could be used as an extremely efficient tool for forensic applications in the Xinjiang Mongolian group.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Marcadores Genéticos , Repetições de Microssatélites , Alelos , China , Impressões Digitais de DNA , Bases de Dados Genéticas , Grupos Étnicos/genética , Frequência do Gene , Genética Populacional , Genoma Humano , Humanos , Desequilíbrio de Ligação , Mongólia , Polimorfismo Genético , Análise de Componente Principal , Probabilidade , Software
8.
Int J Legal Med ; 2019 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-30915532

RESUMO

The Y chromosome short tandem repeat (Y-STR) haplotyping method has been widely used in forensic applications. However, the existing Y-STR panels are not the ideal tools for criminal investigation and database applications because of their relatively low discriminatory capacity (DC) or high mutation rates. In the present study, the multiplex PCR assay (AGCU Y30) for simultaneous amplification of 30 slowly and moderately mutated Y-STR loci labeled by 6-dye fluorescence was developed and validated. The AGCU Y30 assay was capable of amplification purified DNA from casework and database samples on FTA™ cards in direct amplification module with a 10 µL reaction volume. Furthermore, the genetic diversities and forensic parameters of AGCU Y30 were performed using 719 unrelated male samples, demonstrating its high level of genetic polymorphisms and DC in Nantong Han population. This validation study demonstrated good sensitivity, mixture samples, inhibitor tolerance, precision, and concordance for the AGCU Y30, which is suitable for forensic investigation and database construction.

9.
Electrophoresis ; 40(11): 1525-1534, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30758063

RESUMO

In the forensic field, ancestry-informative markers (AIMs) showing remarkable allele frequency discrepancies can be useful in deducing the likely ancestral origin of a person or estimating the ancestry component proportions of an admixed population or individual. Diallelic single nucleotide polymorphisms are genetic markers commonly used for ancestry inference, but the genotyping methods of single nucleotide polymorphisms fail to fulfil the demands of cost-effectiveness and simplicity of experimental manipulation. To overcome the limitations, a 39 ancestry-informative insertion/deletion polymorphism multiplex panel was developed in the present study to perform ancestry assignment of individuals from three distinct biogeographic regions (Africa, Europe, East Asia). And in the panel design, we also attempted to incorporate AIM-insertion/deletion polymorphisms exhibiting allelic frequency differences in Han, Uyghur, and Tibetan populations into the multiplex assay, further expecting to provide valuable information for refining ancestry inference within Chinese populations. Statistical analyses were performed to estimate efficiency of this panel in clustering individuals from three continents mentioned above into their corresponding populations, which indicated the potential of the panel in ancestry inference. Besides, we also estimated the ancestral component proportions of Uyghur group and STRUCTURE analysis revealed that Uyghurs from Urumchi city of northern Xinjiang exhibited a distinctly admixed pattern of East Asian and European ancestry components with a ratio of 49:44, reflecting the relatively higher East Asian ancestry component contribution in the gene pool of the Uyghur group.

10.
J Biol Chem ; 294(14): 5666-5676, 2019 04 05.
Artigo em Inglês | MEDLINE | ID: mdl-30760524

RESUMO

Atg101 is an autophagy-related gene identified in worms, flies, mice, and mammals, which encodes a protein that functions in autophagosome formation by associating with the ULK1-Atg13-Fip200 complex. In the last few years, the critical role of Atg101 in autophagy has been well-established through biochemical studies and the determination of its protein structure. However, Atg101's physiological role, both during development and in adulthood, remains less understood. Here, we describe the generation and characterization of an Atg101 loss-of-function mutant in Drosophila and report on the roles of Atg101 in maintaining tissue homeostasis in both adult brains and midguts. We observed that homozygous or hemizygous Atg101 mutants were semi-lethal, with only some of them surviving into adulthood. Both developmental and starvation-induced autophagy processes were defective in the Atg101 mutant animals, and Atg101 mutant adult flies had a significantly shorter lifespan and displayed a mobility defect. Moreover, we observed the accumulation of ubiquitin-positive aggregates in Atg101 mutant brains, indicating a neuronal defect. Interestingly, Atg101 mutant adult midguts were shorter and thicker and exhibited abnormal morphology with enlarged enterocytes. Detailed analysis also revealed that the differentiation from intestinal stem cells to enterocytes was impaired in these midguts. Cell type-specific rescue experiments disclosed that Atg101 had a function in enterocytes and limited their growth. In summary, the results of our study indicate that Drosophila Atg101 is essential for tissue homeostasis in both adult brains and midguts. We propose that Atg101 may have a role in age-related processes.

11.
Mol Biol Rep ; 46(1): 1043-1055, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30603950

RESUMO

Killer cell immunoglobulin like receptor genes expressed by the natural killer cells and T cells of some subclasses are one of the very diversity and complex gene families on chromosome 19q13.4 which play key developmental role in the fight against viral infections, malignantly transformed cells and so on in the first line. As potential markers, KIRs have received more and more attention for some infections and diseases which have some clinical outcomes. In addition, the KIRs are diverse in different populations due to the distinctive alleles and haplotypes, may contribute to understand the genetic relationships among populations. To data, there is no report on the KIR gene polymorphism of the Kirgiz ethnic minority. The purpose of this paper is to determine the KIR gene diversity: KIR gene presence/absence polymorphisms, haplotype/genotype polymorphisms and these polymorphisms between populations distributed worldwide. In this study, we have genotyped the 19 KIR genes: KIR2DL1-4, 2DL5A, 2DL5B, 2DS1-3, 2DS4*FUL, 2DS4*DEL, 2DS5, 3DL1-3, 3DS1, 2DP1, 3DP1*FUL and 3DP1*DEL, and two unique genotypes are found in two Kirgiz individuals. The PCA plot, Neighbor-Joining tree analysis and MDS plot are conducted and the groups of the same language family gather together basically. KIR gene diversity study of populations distributed in different parts of the world. shows that KIRs can be used as a supplement for human genetic researches.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Grupos Étnicos/genética , Internacionalidade , Grupos Minoritários , Polimorfismo Genético , Receptores KIR/genética , Frequência do Gene , Humanos , Filogenia , Análise de Componente Principal
12.
Mol Biol Rep ; 46(2): 1577-1584, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30689186

RESUMO

Pure breed dogs of Western origin are increasingly more popular in China as is a need to differentiate breeds and individual dogs for personal and forensic reasons. Research on genetic diversities of the canine population in China is rarely conducted. In this study, genetic distributions and forensic efficiencies of 19 canine STR loci in Labrador Retriever population from China were evaluated by using one available commercial canine kit in China. This panel was used to genetically define 214 Labrador Retrievers in China, as an example of one of the most important Western breeds and to compare them with Labrador Retrievers from America based on three overlapping STR loci. Moreover, genetic relationship analyses between Labrador Retriever population and two reference populations in America were performed. All 19 STR loci were polymorphic and conformed to Hardy-Weinberg equilibrium in the studied population. The STR panel was able to discern individual dogs with a high degree of accuracy. Breed-wide genetic heterozygosity comparisons based on present and published allele frequencies revealed that the studied population had the lower genetic heterozygosity than canine populations in America. Principal component analysis among Labrador Retriever population and other reference populations showed that the studied Labrador Retrievers were genetically close to the retriever breeds in America. Population genetic structure analyses among these canine breeds further revealed genetic differentiations between the studied Labrador Retriever population and other compared breeds. In conclusion, these STR loci had relatively high forensic values in Labrador Retriever population in China, which could be employed for individual identification and kinship testing.


Assuntos
Cães/genética , Seleção Artificial/genética , Alelos , Animais , Cruzamento/métodos , China , Impressões Digitais de DNA/métodos , Genética Forense/métodos , Frequência do Gene/genética , Genética Populacional/métodos , Heterozigoto , Repetições de Microssatélites , Polimorfismo Genético , Estados Unidos
13.
Forensic Sci Res ; 3(2): 145-152, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30483663

RESUMO

China is a multinational country composed of 56 ethnic groups of which the Han Chinese accounts for 91.60%. Qinghai Province is located in the northeastern part of the Qinghai-Tibet Plateau, has an area of 72.12 km2, and is the fourth largest province in China. In the present study, we investigated the genetic polymorphisms of 20 short tandem repeat (STR) loci in a Qinghai Han population, as well as its genetic relationships with other populations. A total of 273 alleles were identified in 2 000 individuals at 20 loci, and the allelic frequency ranged from 0.000 2 to 0.532 7. The 20 STR loci showed a relatively high polymorphic rate in the studied group. Observed and expected heterozygosities ranged 0.613 0-0.907 5 and 0.614 8-0.920 0, respectively. The combined power of discrimination, and the probability of exclusion in duo and trio cases were 0.999 999 999 999 999 999 999 999 34, 0.999 996 0 and 0.999 999 996 5, respectively. Analyses of interpopulation differentiation revealed that the most significant differences were found between the Qinghai Han and Malaysian, while no significant differences were found between the Qinghai Han and Han people from Shaanxi and Jiangsu. The results of principal component analysis, multidimensional scaling analysis and phylogenetic reconstructions also suggested the close relationships between the Qinghai Han and other two Han populations. The present results, therefore, indicated that these 20 STR loci could be used for paternity testing and individual identification in forensic applications, and may also provide information for the studies of genetic relationships between Qinghai Han and other groups.

14.
R Soc Open Sci ; 5(6): 172089, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30110484

RESUMO

Short tandem repeats (STRs) with a high level of polymorphisms and convenient detection method play an indispensable role in human population and forensic genetics. Recently, we detected the 21 autosomal non-combined DNA index system (non-CODIS) STR loci in a Kyrgyz ethnic group, calculated their forensic parameters and analysed its genetic relationships with reference populations from China. In total, 168 alleles were observed at 21 non-CODIS STRs with corresponding allelic frequencies from 0.0016 to 0.4788. No significant deviations at these STRs were observed from the Hardy-Weinberg equilibrium. The values of cumulative power of discrimination and probability of exclusion for all the 21 non-CODIS STRs were 0.99999999999999999998835 and 0.9999994002, respectively. Furthermore, the analyses of phylogenetic trees, genetic distances and interpopulation differentiations demonstrated that the Kyrgyz group had relatively close genetic relationships with the Uygur and Kazak groups. These 21 non-CODIS STRs were characterized by high genetic diversities in the Kyrgyz group and could be applied as a robust tool for individual identification and kinship testing in forensic sciences.

15.
Front Genet ; 9: 279, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30116256

RESUMO

In comparison with the most preferred genetic marker utilized in forensic science (STR), insertion/deletion analysis possesses further benefits, like absence of stutter peak, low mutation rate, and enabling mixed stain analysis. At present, a total of 169 unrelated healthy Dongxiang individuals dwelling in Dongxiang Autonomous county of Gansu province were recruited in our study to appraise the forensic usefulness of the panel including 30 autosomal diallelic genetic markers. The insertion allele frequencies were in the range of 0.1598 at HLD 111 to 0.8550 at HLD 118. The cumulative match of probability and the combined probability of exclusion were estimated based on independence of pairwise loci, with the values of 3.96 × 10-11 and 0.9886, respectively, which showed tremendous potential of this panel to be qualified for forensic personal identification in Chinese Dongxiang group. And it could also be used as a complementary tool for forensic parentage testing when combined with standard STR genetic markers. Furthermore, calculation of the DA distance and Fst values of pairwise populations, phylogenetic reconstruction, multidimensional scaling analysis, structure clustering analysis were also conducted to probe the genetic relationships between Dongxiang group and the other 30 reference populations. Results demonstrated that Dongxiang ethnic group might be genetically closer related with most Chinese populations involved in our study, especially Tibet groups, Xibe group, and several Han populations.

16.
Sci Rep ; 8(1): 11054, 2018 Jul 23.
Artigo em Inglês | MEDLINE | ID: mdl-30038288

RESUMO

In recent years, deletion and insertion polymorphisms (DIPs) were treated as a novel complementary tool with huge potential for forensic applications. In this study, we utilized 30 DIP loci to make a comprehensive research of allele frequency distribution and compute forensic parameters to evaluate the efficiency of forensic applications in the 295 unrelated healthy individuals of Kyrgyz group, and in addition, infer the genetic relationships between Kyrgyz group and 24 other previously studied groups. No significant departures from Hardy-Weinberg equilibrium and linkage disequilibrium were observed at these 30 DIP loci. The combined power of discrimination and the combined probability of exclusion for all 30 DIP loci in Kyrgyz group were 0.9999999999989 and 0.9939, respectively. Furthermore, the results of the interpopulation differentiations, phylogenetic reconstruction, population genetic structure and principal component analyses suggested that Kyrgyz group had relatively close genetic relationships with Kazakh and Uygur groups. However, it was also important to stress that 15 loci were selected out from these 30 DIP loci using the method of selecting ancestry markers, which could be utilized for further ancestry inference study relatively.

17.
Int J Legal Med ; 132(5): 1297-1299, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29582135

RESUMO

In present study, the genetic polymorphisms of 22 autosomal short tandem repeat (STR) loci were analyzed in 496 unrelated Chinese Xinjiang Hui individuals. These autosomal STR loci were multiplex amplified and genotyped based on a novel STR panel. There were 246 observed alleles with the allele frequencies ranging from 0.0010 to 0.3609. All polymorphic information content values were higher than 0.7. The combined power of discrimination and the combined probability of exclusion were 0.999999999999999999999999999426766 and 0.999999999860491, respectively. Based on analysis of molecular variance method, genetic differentiation analysis between the Xinjiang Hui and other reported groups were conducted at these 22 loci. The results indicated that there were no significant differences in statistics between Hui group and Northern Han group (including Han groups from Hebei, Henan, Shaanxi provinces), and significant deviations with Southern Han group (including those from Guangdong, Guangxi provinces) at 7 loci, and Uygur group at 10 loci. To sum up, these 22 autosomal STR loci were high genetic polymorphic in Xinjiang Hui group.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Frequência do Gene , Genética Populacional , China , Grupos Étnicos/genética , Genética Forense , Variação Genética , Humanos , Repetições de Microssatélites , Polimorfismo Genético
18.
Gene ; 660: 41-50, 2018 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-29572194

RESUMO

The present study investigated the genetic diversities of 30 autosomal insertion and deletion (InDel) loci of Investigator DIPplex kit (Qiagen) in Chinese Salar ethnic minority and explored the genetic relationships between the studied Salar group and other populations. The allelic frequencies of deletion alleles at the 30 InDel loci were in the range of 0.1739 (HLD64) to 0.8478 (HLD39). The discrimination power, polymorphism information content and probability of exclusion ranged from 0.4101 (HLD39) to 0.6447 (HLD136), 0.2247 (HLD39) to 0.3750 (HLD92) and 0.0400 (HLD39) to 0.2806 (HLD92), respectively. The observed and expected heterozygosity were in the range of 0.2348 (HLD39) to 0.5913 (HLD92), and 0.2580 (HLD39) to 0.5000 (HLD92), respectively. The cumulative discrimination power and probability of exclusion of the 30 loci reached 0.999999999993418 and 0.99039, respectively. The results of population genetic differentiation comparisons revealed that Salar group had similar allele distributions with Qinghai Tibetan, Xibe and Yi groups. Population Bayesian cluster analysis showed that there were similar ancestry components between Salar group and most Chinese populations. Besides, the principal components analysis and phylogenetic reconstructions further indicated that Salar group had intimate genetic relationships with Qinghai Tibetan and Xibe groups. In short, the results of the current studies indicated the genetic distributions of the 30 InDel loci in Salar group were relatively high genetic polymorphisms, which could be used in forensic individual identifications and as a supplementary tool for complex paternity testing.


Assuntos
Grupo com Ancestrais do Continente Asiático , Genética Forense , Loci Gênicos , Mutação INDEL , Filogenia , Polimorfismo Genético , Grupo com Ancestrais do Continente Asiático/etnologia , Grupo com Ancestrais do Continente Asiático/genética , China , Feminino , Humanos , Masculino
19.
Mol Biol Rep ; 45(2): 99-108, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29372494

RESUMO

In the present study, we calculated the allelic frequencies and forensic descriptive parameters of Hui ethnic minority on the basis of 21 short tandem repeat (STR) loci aiming at understanding population structure better and enriching population genetic database. Bloodstain samples of 506 unrelated healthy Hui individuals in Xinjiang Uygur Autonomous Region were collected. Altogether 268 alleles were observed and the allelic frequencies ranged from 0.0010 to 0.5306. The combined power of discrimination and the cumulative probability of exclusion of the 21 STR loci in Hui ethnic minority were 0.9999999999999999999999998697 and 0.9999999968, respectively. Population data obtained manifested that the panel of 21 STR loci could provide robust genetic information for individual identification and paternity testing involved in forensic applications for Huis of Xinjiang Region. Furthermore, the present results of interpopulation differentiations, phylogenetic trees and principal component analysis which were conducted based on the overlapping 16 STR loci revealed that Hui group was genetically close to Xibe ethnic group and Han populations from different regions.


Assuntos
Grupo com Ancestrais do Continente Asiático/genética , Grupos Étnicos/genética , Genética Forense/métodos , Alelos , China/etnologia , Feminino , Frequência do Gene/genética , Genética Populacional/métodos , Voluntários Saudáveis , Humanos , Masculino , Repetições de Microssatélites/genética , Filogenia , Polimorfismo Genético/genética , Análise de Componente Principal , Análise de Sequência de DNA/métodos
20.
Int J Legal Med ; 132(3): 729-731, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29134366

RESUMO

Allelic frequencies and genetic polymorphisms of 19 short tandem repeats loci were investigated so as to provide more genetic data for forensic applications in Chinese Uzbek group; besides, we evaluated phylogenetic relationships of Uzbek group with other populations. All loci were observed to conform to Hardy-Weinberg equilibrium after Bonferroni's correction. Two hundred and nine alleles were identified in 212 unrelated healthy Uzbek individuals and their allelic frequencies ranged from 0.0024 to 0.5259. The cumulative discrimination power and cumulative probability of exclusion were 0.999999999999999999999996501 and 0.999999998759, respectively. The results of population differentiation comparison, principal component analysis, and phylogenetic tree revealed that Uzbek group had close relationships with Uyghur and Kazakh groups.


Assuntos
Grupos Étnicos/genética , Genética Populacional , China/etnologia , Impressões Digitais de DNA , Frequência do Gene , Humanos , Repetições de Microssatélites , Filogenia , Polimorfismo Genético
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