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为了探讨定量ＰＣＲ方法在分子水平对Ｄｏｗｎ 综合征基因诊断意义，本实验以ＳＴＲ（Ｄ２１Ｓ１１） 做为遗传标记，合成特异引物对１１ 例正常人（６ 例外周血，５ 例羊水）及２８ 例先天愚型患者外周血进行同位素标记ＰＣＲ 扩增后定量分析，结果显示１１ 例正常人中１０ 人呈ＤＮＡ 含量为１ ：１ 关系的两条电泳带，１ 人为１ 条带。２８ 例患者中２４ 人呈ＤＮＡ含量为２ ：１ 的两条带，３ 人为ＤＮＡ 含量为１ ：１：１ 关系的三条带，１ 人为１ 条带。实验表明Ｄ２１Ｓ１１ 位点ＳＴＲ多态是对Ｄｏｗｎ 综合征基因诊断很有应用价值的遗传标记，应用定量ＰＣＲ的方法可在２４ 小时内对先天愚型做出快速、准确的产前及临床基因诊断。
In order to investigate the significance of quantitative PCR in molecular diagnosis of Down syndrome gene, STR (D21S11) was used as a genetic marker in this study. 11 normal individuals (6 peripheral blood, 5 amniotic fluid) and 28 congenital Fool-type patients with isotope-labeled PCR amplification of quantitative analysis, the results showed that 10 cases of 11 normal DNA content of 1: 1 relationship between the two electrophoresis bands, 1 for 1 band. Twenty-four of the 28 patients showed two bands with DNA content of 2: 1, three bands with 1: 1: 1 DNA content and 1 band with 1 band. Experiments show that STR polymorphism at D21S11 locus is a genetic marker useful for gene diagnosis of Down syndrome. Quantitative PCR can be used to make rapid and accurate prenatal and clinical gene diagnosis of Down’s syndrome within 24 hours.