Application of DNA polymorphisms for prenatal diagnosis of beta thalassemia in Chinese.
Application of DNA polymorphisms for prenatal diagnosis of beta thalassemia in Chinese.
复制标题
DNA多态性在中国人β地中海贫血产前诊断中的应用
DOI：
10.1002/ajh.2830250407
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发表时间：
1987
影响因子：
12.8
通讯作者：
Todd,D
中科院分区：
文献类型：
--
作者：
Chan,V;Chan,TK;Ghosh,A;Wong,LC;Ma,HK;Kan,YW;Todd,D
对47例重型β地中海贫血患者及其双亲进行了β地中海贫血和β A基因11个限制性酶切位点多态性的连锁分析。在β珠蛋白基因的BamH Ⅰ 3′位点存在明显的连锁不平衡，因此，在31%的妊娠中，胎儿缺乏该位点可以排除重型β地中海贫血。使用4个限制性酶切位点（Hinc II β、Ava II β、Hind III β和BamH I β），产前诊断在所有家庭都是可行的。在46%的病例中，可以做出明确的诊断，在其余病例中，排除的可能性为50%。对于失败，需要进行胎儿血红蛋白链分析。本文还报告了连续9例β地中海贫血产前诊断的经验。
Forty‐seven Chinese suffering from β thalassemia major and their parents were studied to establish linkage of the βthaland βAgenes with 11 restriction site polymorphisms. There is marked linkage disequilibrium at the BamH I site 3′ to the β globin gene, such that, in 31% of pregnancies, absence of the site in the fetus can exclude β thalassemia major. Using four restriction sites (Hinc II β, Ava II β, Hind III β, and BamH I β), prenatal diagnosis is feasible in all families. In 46% of all cases, a definitive diagnosis can be made, and in the remaining cases, a 50% chance of exclusion is possible. Fetal blood globin chain analysis would be required for the failures. Our experience in nine successive β thalassemia prenatal diagnosis is also reported.