OBJECTIVETo analyze the population genetics characteristics of mitochondrial DNA (mtDNA) in Gelao, Mulao, Maonan ethnic groups from Guizhou.

METHODSMinisequenceing and restriction fragment length polymorphism (RFLP) were used to analyze 12 single nucleotide polymorphism (SNPs) of mitochondrial DNA in the 3 ethnic groups.

RESULTSA total of 30 haplotypes were detected in 156 samples. The distribution of H1, H23 had differed between Mulao, Maonan and Gelao, respectively, and so did M7 among the three groups. The difference was statistically significant (P < 0.05). Mulao, Maonan had respectively differed from Gelao and the difference was also statistically significant (P < 0.05).

CONCLUSIONThere was a great similarity in the distribution of haplotypes of the mtDNA among the three ethnic groups, except for some difference in the distribution of certain haplotypes.

Asian Continental Ancestry Group ; ethnology ; genetics ; China ; ethnology ; DNA, Mitochondrial ; genetics ; Humans ; Male ; Pedigree ; Polymorphism, Genetic

OBJECTIVETo investigate the genetic polymorphism of 15 autosomal short tandem repeat (STR) loci, i.e. D5S818, FGA, D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX and D18S51, in Tibetan population of Changdu area, and to analyze the genetic relationship between this population and other Asian populations.

METHODSThe 15 loci were amplified simultaneously using a multiplex PCR typing system. Amplified STR fragments were analyzed with an ABI PRISM 3100 Avant DNA Analyzer. Arlequin software version 3.1 was used to obtain allele frequencies and polymorphism parameters.

RESULTSThere were 135 STR alleles in the 15 STRs of Changdu Tibetan, with allele frequencies ranging from 0.0065 to 0.5455. The average heterozygosity was 0.7340, the discrimination power was higher than 0.8 except for TPOX and TH01. The accumulative discrimination power was more than 0.9999998, and the accumulative non-parental exclusion probability was 0.99999997.

CONCLUSIONThe 15 STR loci of Changdu Tibetan possess characteristics of high genetic diversity. They can be employed in minority genetics investigation, and individual and paternity test in forensic medicine.

Asian Continental Ancestry Group ; ethnology ; genetics ; Female ; Humans ; Male ; Microsatellite Repeats ; Pedigree ; Polymorphism, Genetic ; Tibet ; ethnology

OBJECTIVETo investigate the genetic polymorphisms of 15 short tandem repeat (STRs) in Guilin Han population.

METHODSDNA was extracted by Chelex method, and 15 STRs were analyzed using AmpFISTR Identifiler kit.

RESULTSFour rare alleles, namely FGA * 10, D2S1338 * 10, D3S1358 * 16.2 and D3S1358 * 17.2, were observed. The combined match probability and exclusion probability for the 15 STRs were 2.89 x 10(-17) and 0.9999993, respectively.

CONCLUSIONThese STRs have good discrimination power and exclusion probability in Guilin Han population.

Asian Continental Ancestry Group ; ethnology ; genetics ; China ; ethnology ; Female ; Humans ; Male ; Microsatellite Repeats ; Polymorphism, Genetic

The study was to investigate the characteristics of Rh blood group of Uygur nationality in Xinjiang. 1 230 blood samples of Uygur nationality were studied by Rh serological typing, modified antiglobulin test, chloroform/trichloroethylene absorption elution test, upstream, downstream and hybrid Rhesus boxes, 10 exons of D gene, RHD(psi) pseudogene. The results showed that the frequency of RHD negative was 5.8%, and no Del type was found. The further investigation of 72 samples of RhD (-) found that ccee (57.02%) and Ccee (29.08%) phenotype as well as RHD(-)/RHD(-) genotype (94.44%) and complete deletion type of D gene exon (91.12%) were all in high frequency, no RHD(psi) pseudugene was detected. In conclusion, the Rh blood group of Uygurs nationality in Xinjiang possesses both oriental and caucasian Rh characteristics, which enriches the diversity of blood types in chinesenation.
Asian Continental Ancestry Group ; genetics ; China ; ethnology ; Gene Deletion ; Humans ; Rh-Hr Blood-Group System ; genetics

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

OBJECTIVETo investigate the genetic polymorphisms of DXS7132, DXS6854, DXS6797, DXS9898, DXS8378 and GATA31E08 short tandem repeats (STRs) loci in Chinese Korean ethnic group of Yanbian, Jilin, and to construct a preliminary database.

METHODSThe allele frequencies of the six STRs loci in Chinese Korean ethnic individuals were analyzed by multiplex polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE).

RESULTSTotal of 8, 6, 8, 8, 5 and 10 alleles were observed in each locus respectively. All loci (in female) met Hardy-Weinberg equilibrium (P > 0.05). The statistical analysis of the 6 STR loci showed the heterozygosities were more than 0.4660, the polymorphic information contents (PIC) were more than 0.5293, the haplotype diversity were more than 0.9993, power of discrimination (PD) in females and males were more than 0.7737 and 0.6107, respectively.

CONCLUSIONThe results showed that, all the 6 STR loci in this study were found to have high heterozygosity and polymorphic information content, so they could provide useful markers for genetic purposes. These results could serve as valuable data to enrich the Chinese Korean ethnic group genetic database and play an important role in genetic study of Chinese population.

Asian Continental Ancestry Group ; ethnology ; genetics ; China ; ethnology ; Chromosomes, Human, X ; genetics ; Female ; Humans ; Korea ; Male ; Microsatellite Repeats ; Polymorphism, Genetic

OBJECTIVETo analyze the distribution of single nucleotide polymorphisms (SNP) of growth hormone receptor (GHR) gene in Chinese Han ethnic population.

METHODSThe sample of 106 unrelated healthy Chinese Hans was studied by sequencing exons of the GHR gene to detect SNP.

RESULTSThere were 6 SNP spots identified in exon 6 and exon 10. Five of them were found in exon 10, and one in exon 6. There were differences between the allele frequencies of the SNP we found and those in the NCBI database. The highest heterozygosity of the SNP was found at 1630 A > C (I526L), which was 47.6%. The SNP 1483 A > C (P477T), 1735 A > C (P561T) and 1319 G > T (C422F) had polarity change. The SNP 536 A > G in exon 6 from the NCBI database was not detected in this population. The allele distribution of SNP was in good unity with the Hardey-Weinberg equilibrium.

CONCLUSIONIt is suggested that the SNP of GHR are unevenly distributed and different in different ethnic populations.

Asian Continental Ancestry Group ; ethnology ; Female ; Gene Frequency ; Humans ; Male ; Polymorphism, Single Nucleotide ; Receptors, Somatotropin ; genetics

OBJECTIVETo investigate the genetic polymorphisms of 15 short tandem repeat (STR) loci in Tujia ethnic group of Hubei province, and to compare the allele frequencies between Hubei Tujia and Chongqing Tujia populations.

METHODSCapillary electrophoresis and five-color fluorescent multi-amplification were applied to detect the genotypes of 15 STR loci in 333 unrelated Hubei Tujia individuals.

RESULTSOne hundred and fifty one alleles were observed in the population, which is higher than 141 alleles observed in Chongqin Tujia population, and their frequencies were from 0.002 to 0.498. No significant deviation from the Hardy-Weinberg Equilibrium was observed (P>0.05). Statistical analysis showed that the heterozygosity of the 15 loci ranged from 0.652 to 0.867. The values of discrimination power (DP) ranged from 0.802 to 0.971. The values of excluding probability of paternity (EPP) ranged from 0.357 to 0.730, and the polymorphism information content (PIC) was 0.57-0.87. The fifteen loci showed an accumulated total discrimination power (TDP) of more than 0.999 999 9, and the cumulative excluding probability of paternity was 0.999 999 7.

CONCLUSIONThis study has accumulated the population genetic data of the 15 STRs in Hubei Tujia ethnic group. The data can be used in forensic and individual identification for this population. Hubei Tujia is phylogenetically related to Chongqing Tujia, and the allele frequencies were non-distinctive (P>0.05), while the number of alleles detected, and the frequencies of some alleles observed were different.

Asian Continental Ancestry Group ; ethnology ; genetics ; China ; Female ; Humans ; Male ; Microsatellite Repeats ; Pedigree ; Polymorphism, Genetic

OBJECTIVETo investigate the genetic polymorphisms and their forensic application of 9 non-combined of DNA index system (CODIS) short tandem repeat(STR) loci in Guangdong Han population.

METHODSDNA samples from 500 unrelated individuals were extracted and amplified with fluorescence labeled multiplex PCR system. PCR products were separated and genotyped with capillary electrophoresis.

RESULTSOne hundred and fifteen alleles and 160 genotypes were observed in the 9 STR loci, respectively. The heterozygosity was 0.824-0.884, the discrimination power (DP) was 0.925-0.969 and the polymorphism information content (PIC) was 0.77-0.86, respectively. The distribution met the Hardy-Weinberg equilibrium (P > 0.05). The total discrimination power was 1.00 x 10(-13), the combined probability of exclusion for trio-paternity testing was 0.999989488. The combined probability of exclusion for duo-paternity testing was 0.873436.

CONCLUSIONThe 9 STR loci are powerful and reliable for personal identification and paternity testing. They can be used as supplementary loci in fatherless (motherless) testing or cases with mutation events.

Alleles ; Asian Continental Ancestry Group ; ethnology ; genetics ; China ; Genotype ; Humans ; Microsatellite Repeats ; Polymorphism, Genetic

Many studies have reported the relationship between CXCL12 G801A polymorphism and cancer risk, with conflicting results. In this study, we tried to clarify the possibility that this polymorphism may increase cancer risk by conducting an updated meta-analysis. PubMed and EMbase were searched for case-control studies regarding the association of the gene polymorphism and cancer risk. Data were extracted and odds ratios (ORs) with 95% confidence intervals (95% CIs) were used to assess the strength of the association. Heterogeneity among articles and publication bias was also assessed. Significantly increased risk for cancer was found (A vs. G: OR=1.26, 95% CI=1.13-1.40, P<0.01; AA+AG vs. GG: OR=1.33, 95% CI=1.16-1.52, P<0.01). In subgroup analysis, statistically elevated cancer risk was found in both Asian and Caucasian populations (for Asian, AA+AG vs. GG: OR=1.74, 95% CI=1.22-2.47, P<0.01; for Caucasian, AA+AG vs. GG: OR=1.24, 95% CI=1.09-1.42, P<0.01). Our result indicated that CXCL12 G801A polymorphism is a risk factor for cancer. To validate the finding, further large-size case-control studies are warranted.
Asian Continental Ancestry Group ; genetics ; Chemokine CXCL12 ; genetics ; European Continental Ancestry Group ; genetics ; Genetic Predisposition to Disease ; Humans ; Neoplasms ; ethnology ; genetics ; pathology ; Odds Ratio ; Polymorphism, Single Nucleotide