汉族人群Tap1和Tap2基因座等位基因频率和基因型频率分布

Distribution of Tap1 and Tap2 Loci Allelic and Genotypic Frequencies in Chinese Hans

本研究分析汉族人群tap1和tap2基因座等位基因和基因型频率的分布及意义。运用TaqManPCR分型技术调查339例中国健康汉族人群随机样本tap1(transporter associated with antigen processing)和tap2基因座等位基因频率和基因型频率分布,并计算个体鉴别力、累积鉴别力、多态性信息含量、无偏倚期望杂合性、观察杂合性等遗传参数。结果表明:共有5种tap1等位基因(tap1*0101、020101、020102、0301和0401)和4种tap2等位基因(tap2*0101、0102、0103和0201)被检出,tap1实际检出基因型8种,占理论基因型的53.3%,tap2实际检出基因型6种,占理论基因型60%。Tap1和tap2基因型分型结果符合Hardy-Weinberg定律(p>0.05)。Tap1*0101(79.79%)和tap2*0101(82.74%)在中国汉族人群中分布最广。结论:Tap1*0101和tap2*0101在汉族人群中分布最广。Tap1和tap2基因座具有一定的信息量和个体鉴别能力,可用于人类遗传学、遗传疾病基因连锁分析、法医学亲子鉴定和个体识别等研究领域。

This study was aimed to investigate the distribution and implication of tapl （ transporter associated with antigen processing） and tap2 loci allelic and genotypic frequencies. The distribution of tap1 and tap2 loci aUelic and genotypic frequences in 339 random samples of healthy Chinese Hans was analyzed by TaqMan PCR. Several genetic information about power of discrimination, cumulative DP, polyrnorphism information content, expected heterozygosity and observed heterozygosity were calculated. The results indicated that 5 tapl alleles （ tapl ~ 0101, 020101, 020102, 0301 and 0401 ） and 4 tap2 alleles （ tap2 ＊ 0101, 0102, 0103 and 0201 ） were detected in all samples. 8 tapl genotypes were found which account for 53.3% of the theoretic genotype and 6 tap2 genotypes were found which account for 60% of the theoretic genotype. The genotyping results of tap1 and tap2 both conform to the Hardy-Weinberg expectations （p 〉0.05）. Tap1 ＊ 0101 （79.79%） and tap2 ＊ 0101 （82.74%） are the most common alleles in Chinese Hans. It is concluded that tap1＊ 0101 and tap2 ＊ 0101 are most common alleles in Clinese Hans, tapl and tap2 loci carry some power of individual discrimination and polymorphism information content. These two loci can be used for the research in the fields of human genetics, linkage analysis of genetic disease genes, paternity test and individual identification and so on.