| 1 | HLA-A Gene Polymorphism Defined by High-Resolution Sequence-Based Typing in 161 Northern Chinese Han People显示文摘Human leukocyte antigen(HLA)system is the most polymorphic region known in the human genome.In the present study,we analyzed for the first time the HLA-A gene polymorphisms defined by the high-resolution typing methods-sequence-based typing(SBT)in 161 Northern Chinese Han people. A total of 74 different HLA-A gene types and 36 alleles were detected. The most frequent alleles were A 110101(GF=0.2360),A 24020101(GF=0.1646),and A 020101(GF=0.1553);followed by A 3303(GF=0.1180),A3001(GF=0.0590),and A310102(GF=0.0404).The frequencies of following alleles,A0203,A0205,A0206,A0207,A030101,A2423,A2601,A3201,and A3301,are all higher than 0.0093. The homozygous alleles include A020101,A110101,A24020101 and A310102.Heterozygosity(H),polymorphism information content (PIC),discrimination power(DP)and probability of paternity exclusion(PPE)of HLA-A in the samples were calculated and their values were 0.8705,0.8491,0.6014,and 0.9475,respectively. Han population,especially the allele subtypes character,will be of great interest for clinical transplantation, disease-associated study and forensic identification. Implementation of high-resolution typing methods allows a significantly wider spectrum of HLA variation including rare alleles. This rpectrum will further be extensively utilized in many fields. | ChunxiaYan RuilinWang JingxiangLi YajunDeng DongyingWu HongboZhang HongxingZhang LidongWang ChunrongZhang HaiyanSun XiuqingZhang JianWang HuanmingYang ShengbinLi | 2003 | Genomics, Proteomics & Bioinformatics2003,1,4: | 13 |
| 2 | Polymorphism Profile of Nine Short Tandem Repeat Loci in the Han Chinese显示文摘Nine short tandem repeat (STR) markers (D3S1358, VWA, FGA, THO1, TPOX,CSFIPO, D5S818, D13S317, and D7S820) and a sex-identification marker (Amel-ogenin locus) were amplified with multiplex PCR and were genotyped with afour-color fluorescence method in samples from 174 unrelated Han individuals inNorth China. The allele frequencies, genotype frequencies, heterozygosity, prob-ability of discrimination powers, probability of paternity exclusion and Hardy-Weinberg equilibrium expectations were determined. The results demonstratedthat the genotypes at all these STR loci in Han population conform to Hardy-Weinberg equilibrium expectations. The combined discrimination power (DP) was1.05 × 10-10 within nine STR loci analyzed and the probability of paternity exclusion(EPP) was 0.9998. The results indicate that these nine STR loci and the Amelo-genin locus are useful markers for human identification, paternity and maternitytesting and sex determination in forensic sciences. | ShuangdingLi ChunxiaYan YajunDeng RuilinWang JianWang HuanmingYan ShengbinLi | 2003 | Genomics, Proteomics & Bioinformatics2003,1,2: | 0 |