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目的 :研究人类短串联重复序列D2 1S14 0 9和D2 1S11在唐氏综合征基因诊断中的应用。方法 :采集河南无血缘关系汉族个体血样 ,应用Chelex法提取DNA ,聚合酶链式反应扩增 ,非变性聚丙烯酰胺凝胶电泳分型 ;与常规细胞遗传学外周血、绒毛、羊水细胞分裂中期染色体细胞培养分析比较。结果 :得到D2 1S14 0 9和D2 1S11在河南汉族群体中的基因频率 ,分别有 6、11个等位基因 ,12、3 5个基因型 ,杂合度为 0 65、0 81,个体识别率为 0 81、0 94,非父排除率为 0 3 7、0 94。在 12例怀疑为唐氏综合征的患儿中 11例D2 1S14 0 9和D2 1S11诊断与细胞遗传学染色体分析一致 (11/12 ) ,另 1例染色体核型正常而基因诊断为唐氏综合征 ;另 1例绒毛和 1例羊水产前诊断与细胞遗传学染色体分析一致。结论 :在河南汉族人群中D2 1S14 0 9和D2 1S11多态性较好 ,在唐氏综合征基因诊断中有重要意义
Objective: To study the application of human short tandem repeats D2 1S14 0 9 and D2 1S11 in the gene diagnosis of Down’s syndrome. Methods: Blood samples were collected from Han unrelated Han Chinese. Chelex method was used to extract DNA, amplified by polymerase chain reaction (PCR) and non-denatured polyacrylamide gel electrophoresis. Compared with conventional cytogenetic peripheral blood, chorionic villi and amniotic fluid cell metaphase Chromosome cell culture analysis comparison. Results: The frequencies of D2 1S14 0 9 and D2 1S11 in Henan Han population were obtained. There were 6, 11 alleles and 12, 35 genotypes, respectively. The heterozygosity was 0 65,081. The individual recognition rate was 0 81,0 94 and non-parent exclusion rate 0 3 7,0 94. Of the 12 children suspected of Down’s syndrome in 11 children with D2 1S14 0 9 and D2 1S11 diagnosis consistent with cytogenetic chromosome analysis (11/12), and the other 1 case of normal karyotype and genetic diagnosis of Down’s syndrome Another case of villus and a case of amniotic fluid prenatal diagnosis and cytogenetic chromosome analysis consistent. Conclusion: The polymorphisms of D2 1S14 0 9 and D2 1S11 in Henan Han population are good, which is of great significance in the gene diagnosis of Down’s syndrome