OBJECTIVETo investigate the polymorphism of 17 short tandem repeat (STR) loci of Tibetan minority ethnic group from Lhasa.

METHODSBlood samples were obtained from 132 unrelated Tibetan individuals from Lhasa. DNA templates were screened by home-made AGCU17+1 kit and 3130XL genetic analyzer. Genotyping was performed using GeneMapper software (version 3.2).

RESULTSThe allele frequencies of 17 STR loci ranged 0.0038-0.5720, and the power of discrimination ranged 0.779-0.979, the power of exclusion ranged 0.327-0.737, the polymorphism information contents ranged 0.538-0.910, and the heterozygosity ranged 0.629-0.871. The cumulative coupling probability was 3.93 × 10(-20), and the cumulative power of exclusion was 0.9999995234. Of 17 STR loci, Penta E and D6S1043 had the highest polymorphism indicators, while TPOX had the lowest.

CONCLUSIONThe 17 STR loci used in this study are highly polymorphism in Tibetan minority ethnic group from Lhasa and fit for the population genetic study and forensic cases.

Asian Continental Ancestry Group ; genetics ; Ethnic Groups ; genetics ; Gene Frequency ; Genotype ; Humans ; Microsatellite Repeats ; genetics ; Minority Groups ; Polymorphism, Genetic ; Tibet

OBJECTIVETo investigate the polymorphisms of 21 short tandem repeat (STR)loci of Salar minority ethnic group in Qinghai Province.

METHODSBlood samples were collected from 120 unrelated healthy Salar individuals from Gandu town in Hualong county. DNA templates were screened by home-made AGCU21+1 kit. The findings were further compared with those of Hans in Zhejiang Province, Hans in Ningxia Hui Autonomous Region, Tibetans in Tibet Autonomous Region, and Tujias in Hubei Province.

RESULTSThe allele frequencies of 21 STR loci ranged 0.0042-0.4917, the genotype frequencies ranged 0.0083-0.3750, the power of discrimination ranged 0.796-0.948, the heterozygosity ranged 0.650-0.817, the polymorphism information contents ranged 0.590-0.810, and the power of exclusion ranged 0.355-0.630. The cumulative coupling probability was 1.75×10(-20), and the cumulative power of exclusion was 0.9999999. Significant differences were found at 14, 12, 12, 13 of the 21 STR loci between Salar and Hans of Zhejiang Province, Ningxia Hui Autonomous Region, Tibetans of Tibet Autonomous Region, and Tujias of Hubei Province (P<0.05).

CONCLUSIONThe 21 STR loci used in this study are highly polymorphic in Salar minority ethnic group from Qinghai Province and therefore suitable for population genetics study, screening of disease-related genes, and forensic individual identification.

Asian Continental Ancestry Group ; genetics ; China ; Ethnic Groups ; genetics ; Genotype ; Humans ; Microsatellite Repeats ; genetics ; Minority Groups ; Polymorphism, Genetic

OBJECTIVETo study the genetic polymorphism of 15 short tandem repeats (STR)(D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, CSF1PO, TPOX, TH01, vWA, FGA) in Mulao nationality of Guangxi province, and to explore genetic relationship between Mulao nationality and other 10 nationalities.

METHODSThe allelic frequencies and the genotype of 15 STR loci were generated from 183 unrelated individuals in Mulao nationality and other 10 nationalities of Guangxi by PCR-STR and genescan. Phylogenetic tree were constracted neighbor-Joining method.

RESULTSThere were 136 STR alleles and 422 genotypes in the 15 STR of Mulao nationality, with its allele frequencies ranging from 0.0027 to 0.5243. The average heterozygosity was 0.7632, the accumulative discrimination power was more than 0.999 999 999 9, and the probability of paternity exclusion was more than 0.999 998 469 8. The genetic distances between Mulao nationality and other minority of Guangxi were much closer than those between Mulao nationality and Han nationality and Uighur nationlity.

CONCLUSIONThe 15 STR loci of Mulao nationality in Guangxi possesses the characteristics of high genetic diversity, except the TPOX locus. They can be employed in group genetic investigation, individual and paternity test in forensic medicine. The genetic distances between Mulao nationality and other minority of Guangxi are more closer than those between Mulao nationality and Han nationality and Uighur nationality.

China ; ethnology ; Ethnic Groups ; genetics ; Gene Frequency ; Genetic Variation ; Genotype ; Humans ; Microsatellite Repeats ; genetics

China ; Ethnic Groups ; genetics ; Female ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic ; Receptors, Complement ; genetics

OBJECTIVETo investigate the polymorphisms of 17 Y-STR loci in Han population in Guangdong Province and explore its application in forensic medicine.

METHODSeventeen Y-STR loci (DYS19, DYS385a/b, DYS635, DYS389I, DYS389II,DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, Y-GATA-H4) were analyzed using Y filer™ kit in 1000 unrelated individuals and 1000 DNA-confirmed father-son pairs. All mutations were confirmed by DNA sequence analysis.

RESULTSNo shared haplotypes were observed among the 1000 unrelated male individuals, and the gene diversity of 17 Y-STR loci ranged from 0.4285 (DYS391) to 0.9654 (DYS385a/b). The samples yielded an overall haplotype diversity of 1.000. A total of 17000 meiotic events were investigated in 1000 father-son pairs with DNA-confirmed biological paternity and 46 differences were observed between the fathers and sons. The average mutation rate was 0.0027 (95%CI, 0.0020-0.0036) per locus.

CONCLUSIONThe 17 Y-STR loci included in Y-filer have high genetic polymorphisms in South China Han population and have good prospect for application in forensic medicine.

China ; Chromosomes, Human, Y ; genetics ; Ethnic Groups ; genetics ; Gene Frequency ; Haplotypes ; Humans ; Male ; Polymorphism, Genetic

OBJECTIVETo analyze genetic polymorphisms of Penta D and E loci in Korean racial Chinese of Yanbian area.

METHODSOne hundred unrelated individuals of Korean racial Chinese were analyzed by methods of PCR and restriction fragment length polymorphism.

RESULTSEight alleles and 22 genotypes were observed from Penata D locus, and 16 alleles and 35 genotypes were observed from Penta E locus.

CONCLUSIONThe distribution of two locus genotypes in Korean racial Chinese of Yanbian area met Hardy-Weinberg equilibrium. And the obtained data can be used to individual identity, paternity testing and the study of Korean ethnic group of Chinese population.

Asian Continental Ancestry Group ; genetics ; China ; ethnology ; Ethnic Groups ; genetics ; Humans ; Polymorphism, Genetic

To understand the hepatitis C virus (HCV) genotype distribution characteristics in Xinjiang region. 6462 cases with chronic HCV infection that were treated at the First Affiliated Hospital of Xinjiang Medical University from January 2013 to September 2018 were selected, and repeated testers were excluded. A total of 4773 cases with HCV genotypes were efficiently included. PCR-reverse dot hybridization method was used to retrospectively analyze the genotypes distribution. (2) test or F-test was used for intergroup comparison. < 0.05 was considered as statistically significant. Five genotypes were detected in 4 773 samples: genotype 1b 2928 cases (61.3%), genotype 2a 1241 cases (26%), and genotype 3a 375 cases (7.9%), genotype 3b 205 cases (4.3%), and genotype 6a 24 cases (0.5%). Patients were 48.14 ± 13.93 years old. Genotype 1b was mainly detected in all age groups. There were 2 965 cases of Han ethnicity and 1808 cases of 19 ethnic minorities, of which 1798 cases (60.6%) and 1130 cases (62.5%) were genotype 1b, and 235 cases (7.9%) and 345 cases (19.1%) were genotype 3, respectively. Among the ethnic minorities, Uyghur were the predominant, and genotype 6a could be detected; however, no other ethnic groups had detected genotype 6a. There were 704 Uyghur of genotype 1b (62.1%), 269 Uyghur of genotype 3 (23.7%), and 235 Hans of genotype 3 (7.9%). There were 2 413 males and 2 360 females, of which 1 418 males (58.8%), and 1 510 females (64%) were of genotype 1b, and 424 males (17.6%), and 156 females (6.6%) were of genotype 3. There was a statistically significant difference between the gender of patients with genotype 1b and non-genotype 1b ( < 0.05). There was a statistically significant difference in the detection rate of genotype 2a, 3a, 3b, 6a between Han and ethnic minority patients ( < 0.05). HCV genotypes distribution in Xinjiang region is diverse, and is mainly type 1b. An ethnic minority has higher proportion of HCV genotype 3 than that of Han ethnicity. HCV genotypes detection in Xinjiang region enriches the distribution characteristics of HCV genotypes and provides a basis for individualizing treatment for patients in China.
Adult ; China ; Ethnic Groups ; Female ; Genotype ; Hepacivirus ; genetics ; Hepatitis C ; Humans ; Male ; Middle Aged ; Minority Groups ; Retrospective Studies

OBJECTIVE: To explore the distribution characteristics of main antigen gene frequencies of Duffy,Diego,Kidd,Dombrock,MNS,Lutheran,Kell,Colton,Scianna,Yt,Knops and Indian in red blood cell blood group system of Li nationality in Hainan Province. METHODS: Antigens in twelve rare blood group systems of 214 Li people in Hainan Province were genotyped and analyzed by polymerase chain reaction-sequence specific primers (PCR-SSP). RESULTS: The gene frequency of antigens in twelve rare blood group systems of 214 Li people in Hainan Province including: the gene frequency of Duffy blood group system: fy CONCLUSION The genetic distribution and genetic status in twelve rare blood group systems of Li nationality in Hainan Province are relatively stable. The gene distribution of Duffy, Diego, Kidd, Drombrock, MNS and Lutheran blood group systems are polymorphic and show unique distribution characteristics compared with other regions and different nationalities. The gene frequency distribution of Kell、Colton、Scianna、Yt、Knops、Indian blood group systems are monomorphic.
Blood Group Antigens/genetics* ; Ethnic Groups ; Gene Frequency ; Genotype ; Humans ; Kidd Blood-Group System ; Polymorphism, Genetic

Child, Preschool ; Ethnic Groups ; Female ; Humans ; Male ; Pedigree ; beta-Thalassemia ; genetics

OBJECTIVETo investigate the relationship between hormone sensitive lipase (HSL) gene polymorphism and aerobic endurance.

METHODSThe (CA)n repeats polymorphism genotypes in HSL intro 6 of 123 outstanding long distance runners and 127 controls of Han nationality in northern China were analyzed by PCR and Fluorescence labeled STR-genescan. Repeat polymorphisms were grouped according to segmentation point and alleles were divided into long or short chains. Chi-square test was used to analyze the frequency difference of allelic and genotypic between athlete and control groups.

RESULTS(CA) n repeats polymorphism in HSL gene was total of 9 different repeat number of alleles, which composed of 25 different genotypes. The chi-square test result showed that when compared short and long chain alleles split by 4, there was a significant difference (P <0.05) of genotype distribution in 5/10 km group compared with control. Compared the rest groups with control, there was no significant difference.

CONCLUSIONCompared short and long chain alleles split by 4, the LL genotype of (CA)n of HSL was associated with aerobic endurance and it might be a molecular marker of elite 5/10 km long distance runners.

Alleles ; China ; Ethnic Groups ; Genotype ; Humans ; Physical Endurance ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Sterol Esterase ; genetics