成都地区汉族群体ApoB3’位点扩增片段长度多态性研究

ENGLISH OF ORIGINAL ARTICLES ( Study on Length Polymorphology of Enlarging Fragment at Apo B 3 Locus in Population Cohort of Han Nationality in Chengdu Region )

用扩增片段长度多态性分析技术对成都地区汉族群体２００名无关个体ＡｐｏＢ３’位点扩增片段长度多态性进行了分析，查出１６个等位基因，片段大小在５４２～９９２ｂｐ之间，基因频率０００２５～０３７５０，杂合性为０７９，ＤＰ值０９５。在１３８种可能的基因型中，发现了４３种基因型，基因型的观察值与期望值符合ＨａｒｔｄＷｅｉｎｂｅｒｇ平衡定律（χ２＝２１３，ｄｆ＝１０，Ｐ＞００１），家系调查证明ＡｐｏＢ３’位点是按孟德尔定律遗传的。采用ＨＳＰＣＲ法提高了方法的灵敏度和特异性。

The length polymorphology analysis of enlarging fragment at Apo 3 locus in 200 unrelated patients out of population cohort of Han nationality in Chengdu region has been performed,using the technique of analysing the length polymorphology of enlarging fragment.As a result,sixteen alleles have been found,with their fragment sizes ranging between 542 and 992 bp,gene frequencies of 0.0025～0.3750,heterozygosity of 0.79 and DP value of 0.95.Of 138 possible genotypes,43 genotypes have been found.The observed and expected values of those genotypes coincide with the Hardy Weinberg equilibrium( χ 2=2,13,df=1.0,P >0.01).The family line investigation showed that the inheritance of Apo B 3 locus follows the Mendelian Law.The sensetivity and specificity of the technique can be improved with HS PCR method.