Carrier detection and prenatal diagnosis of cystic fibrosis using an intragenic TA-repeat polymorphism.
Carrier detection and prenatal diagnosis of cystic fibrosis using an intragenic TA-repeat polymorphism.
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使用基因内 TA 重复多态性进行囊性纤维化的携带者检测和产前诊断。
DOI：
10.1007/bf00215687
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发表时间：
1992
期刊：
影响因子：
5.3
通讯作者：
Boue,A
中科院分区：
文献类型：
--
作者：
Mornet,E;Chateau,C;Simon-Bouy,B;Boue,J;Zielenski,J;Tsui,LC;Boue,A
我们分析了导致囊性纤维化的23个法国家系囊性纤维化跨膜传导调节基因17b内含子TA重复多态的分离，这些家系对ΔF508突变没有信息(即至少有一个父母没有携带ΔF508)或紧密连锁的基因标记。至少观察到13个等位基因，重复数在7~45个之间，杂合度为%。在研究的23个家系中，19个家系对产前诊断或携带者检测完全提供信息，3个家系部分提供信息，1个家系不提供信息。在6个家系中，利用该多态性对CF患者的兄弟姐妹进行了产前诊断或携带者检测。
We have analysed the segregation of a TA-repeat polymorphism in intron 17b of the cystic fibrosis transmembrane conductance regulator gene responsible for cystic fibrosis (CF) in 23 French CF families non-informative for the ΔF508 mutation (i.e. with at least one parent not carrying ΔF508) or closely linked DNA markers. At least 13 different alleles ranging from 7 to 45 repeats were observed and the detected heterozygosity was 89%. Of the 23 families studied, 19 were fully informative for prenatal diagnosis or carrier detection, 3 were partially informative and one was not informative. In 6 families, prenatal diagnosis for CF or carrier detection in siblings of CF cases were performed using this polymorphism.