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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0-0050-345,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0-0090-191 ,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。
To understand the polymorphism distribution of ApoB and YNZ22 in Chinese and to identify the value of maternal cell contamination in prenatal diagnosis, PCR-based amplification of the two VNTRs was performed in 110 unrelated Han individuals in North China Fragment length polymorphism (AFLP) analysis. Thirteen alleles were found in ApoB loci, of which 27, 51 and 53 were not reported in China. The frequency of the alleles was 0-0050-345 and 20 were genotypes. The expected heterozygosity was 0-764 without bias. Polymorphism Information volume 0-76. Eleven alleles and 27 genotypes were found at YNZ22 locus, with a gene frequency of 0-0090-191, unbiased estimates of expected heterozygosity of 0-875, and polymorphic information of 0-872. Analysis of 8 cases of early pregnancy villus tissues and their parents’ DNA samples for prenatal diagnosis showed that one case of villi contained two alleles of the mother, proving the presence of maternal cell contamination. The PCR method for VNTR polymorphism analysis is simple, rapid, and informative. It is of great significance not only in paternity testing and forensic applications, but also in identifying maternal cell contamination of villous tissue and improving the accuracy of prenatal diagnosis .