华北地区汉族人群中ApoB与YNZ22的VNTR多态性及其在产前诊断中的应用  

Polymorphisms of ApoB and YNZ22 VNTR loci among Chinese Han population in Huabei area and its application in prenatal diagnosis.

作　　者：赵蓓[1] 傅伯津 顾红娟[1,2] 宋力 

机构地区：[1]天津市儿童保健所,300074 [2]天津市儿童医院儿科研究所

出　　处：《中国优生与遗传杂志》1999年第6期13-14,共2页Chinese Journal of Birth Health & Heredity

摘　　要：为了解ＡｐｏＢ和ＹＮＺ２２ 在中国人中的多态性分布及其在产前诊断中鉴别母体细胞污染的应用价值，采用ＰＣＲ方法，对华北地区１１０ 名无关汉族个体进行了上述两个ＶＮＴＲ的扩增片段长度多态性（ＡＦＬＰ） 分析。ＡｐｏＢ位点发现１３ 个等位基因，其中２７ ，５１ ，５３ 国内未见报道，其基因频率０－００５０－３４５，基因型２０ 种，无偏倚估计期望杂合性０－７６４，多态信息量０－７６。ＹＮＺ２２ 位点发现１１ 个等位基因，２７ 种基因型，基因频率０－００９０－１９１ ，无偏倚估计期望杂合性０－８７５，多态信息量０－８７２。对８ 例用于产前诊断的早孕绒毛组织及其父母ＤＮＡ样本分析结果表明，１ 例绒毛组织含母亲的两条等位片段，证明母体细胞污染的存在。采用ＰＣＲ方法进行ＶＮＴＲ 的多态性分析，操作简便，快速，信息量丰富，不仅在亲子鉴定和法医学应用中，而且在鉴别绒毛组织的母体细胞污染，提高产前诊断的准确性方面具有重要意义。Polymorphic distributions of ApoB and YNZ22 VNTR loci were invertigated among 110 unrelated Chinese Han individuals with PCR method. 13 alleles and 20 genotypes were found of ApoB,and the allele 27,51 and 53 have not been reported in Chinese population before. Gene frequencies were 0.005 to 0.345, unbiased estimate of heterozygosity was 0.763, PIC was 0.760.11 alleles and 27 genotypes of YNZ22 were determined with gene frequencies 0.009 to 0.191, estimate of heterozygosity 0.875, and PIC 0.875.We analyzed 8 CVS and the parental DNA samples of the above VNTRs.It showed that one CVS was contaminated with maternal cells-has two alleles from the mother and one from the father. This method has been proved simple, fast and informative.It has significant value in not only paternity testing and forensics,but also in discrimination of maternal cell contanination in prenatal diagnosis.

关 键 词：APOB YNZ22 VNTR 多态性 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]