ABSTRACT
This study is to investigate HLA haplotypes in Jiangsu-Zhejiang-Shanghai Han population based on 166 families by serological and molecular biological HLA typing methods and to analyze the distribution characteristic of HLA haplotypes. The results showed that allele frequencies of more than 10% for HLA antigens were A2, A11, A24, B13, B46, B60, DRB1 *04, DRB1 *08, DRB1* 09, DRB1 * 12 and DRB1 * 15. In the analysis of HLA haplotypes, 128 kinds of A-B haplotypes and 182 kinds of B-DRB1 haplotypes were found, comprising 19.28% (128/664) and 27.41%(182/664) of total theoretical haplotypes, respectively. 18 kinds of A-B haplotypes and 23 kinds of B-DRB1 haplotypes occurred at frequencies of more than 0.5% (linkage disequilibrium value, delta > 0) .351 kinds of A-B-DRB1 haplotypes were found, comprising 52.86% (351/664) of total theoretical haplotypes, and 8 kinds of A-B-DRB1 haplotypes occurred at frequencies of more than 0.5% (delta > 0). The common A-B-DRB1 haplotypes were A30-B13-DRB1 * 07(4.22%), A2-B46-DRB1 * 09(3.77%), A33-B58-DRB1 * 17(3.01%), A33-B58-DRB1 * 13.1 (1.81%) and A11-B75-DRB1 * 12(1.51%). The HLA haplotype distribution of Jiangsu-Zhejiang-Shanghai Han population has its own genetic characteristics, so it suggests this population is between southern and northern Han population. The HLA polymorphism of Chinese Han population is more abundant in East Asian populations.
Subject(s)
HLA Antigens/genetics , Haplotypes/genetics , China , Female , Gene Frequency , HLA-A Antigens/genetics , HLA-B Antigens/genetics , HLA-DR Antigens/genetics , HLA-DRB1 Chains , Humans , MaleABSTRACT
OBJECTIVE: To investigate the genetic polymorphism of HLA-DRB1 locus in Jiangsu-Zhejiang-Shanghai Han population and analyze the characteristic of the allele frequency distribution in comparison with that of other populations. METHODS: The technique of polymerase chain reaction-sequence specific primers (PCR-SSP) and reverse polymerase chain reaction-sequence specific oligonucleotide probe (PCR-SSOP) was adopted in genotyping a sample of 626 unrelated healthy individuals collected from a Chinese Han population in Jiangsu-Zhejiang-Shanghai area. HLA-DRB1*0101-1001, DRB3, DRB4 and DRB5 were detected. The allele frequency of HLA-DRB1 was calculated, and the allele frequency distribution of HLA-DRB1 in this population was compared with the results from other populations. RESULTS: HLA-DRB1*0101, 0301, 0701, 09012, 1001, 1201, 1202, 1301/02, 1303/04, 1401/04/05, 1402/03/1305, 1501/02, 16021 and 04xx, 08xx were detected in Jiangsu-Zhejiang-Shanghai Han population. The common HLA-DRB1*allele included 09012(17.97%), 04xx(12.53%), 1202(11.42%) and 1501/02(11.02%). The polymorphism information content is 0.9024, and expected heterozygosity is 0.9634 in Jiangsu-Zhejiang-Shanghai Han population. CONCLUSION: The HLA-DRB1 distribution of Jiangsu-Zhejiang-Shanghai Han population shares some genetic characteristic with other Han populations, but it exhibits its own characteristic, suggesting the intermediate state of this population between the southern and northern Han populations. The polymorphism of HLA-DRB1 of Jiangsu-Zhejiang-Shanghai Han population is the most abundant one in this study.
Subject(s)
HLA-DR Antigens/genetics , Polymorphism, Genetic , China , Gene Frequency , Genetics, Population , HLA-DRB1 Chains , Humans , Polymerase Chain ReactionABSTRACT
By multiplex amplification and four fluorescent technique,the polymorphism distributions of nine STR loci, D3S1358, vWA,FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820 were investigated in Shanghai Han population.Gene frequency (Pi),power of discrimination (DP),polymorphism information content (PIC) expected heterozygosity (H) and probability of paternity exclusion (PE) were calculated. All loci meet Hardy-Weinberg equilibrium. DP of FGA locus,H of D8S1179 locus,PIC of D18S51 locus and PE of D18S51 locus are the biggest among nine STR loci. Cumulate DP (CDP) of nine STR loci is 0.9999996, Cumulate PE (CPE) of nine STR loci is 0.99991. Nine STR loci could be used as the genetic markers of Chinese population in the studies of anthropology, linkage analysis of genetic disease genes, individual identification and paternity test in forensic medicine.
ABSTRACT
A rapid and accurate method of DNA typing for HLA was established to compensate the unsatisfactory serological typing for HLA before transplantation. DNA typing for HLA using by reverse polymerase chain reaction with sequence-spcific oligo probe (reverse PCR-SSOP) could detect HLA-A(*0101 - 8001) and B(*07021 - 8201). The results showed that HLA-AB alleles were successfully analysed in 60 matching subjects and 16 control DNAs from UCLA by reverse PCR-SSOP without false negtive and false positive results. The results were concordance with those of UCLA. The error rate of serological typing was 6.4% for HLA-A and 7.4% for HLA-B. The serological typing missed HLA-A24 and HLA-B46 for two patients with leukemia respectively. Our results suggest that DNA typing for HLA by reverse PCR-SSOP has proved to be a high-resolution, high-specificity, rapid and accurate technique, suitable for clinical application with a greater precision than serological typing.
