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[通过突变分析进行囊性纤维化的产前诊断]

[Prenatal diagnosis of cystic fibrosis by mutational analysis].

作者信息

Németi M, Papp C, Tóth-Pál E, Papp Z

机构信息

Semmelweiss Orvostudományi Egyetem, Budapest.

出版信息

Orv Hetil. 1992 Jun 7;133(23):1433-5.

PMID:1603587
Abstract

The authors give a review about the latest method of the prenatal diagnosis of cystic fibrosis. Examples were chosen from their own cases to illustrate the possibilities of the prenatal diagnosis based on the mutation analysis of the CFTR gene. Using both mutation and haplotype analysis, 10 prenatal diagnosis were performed from chorionic villus samples taken in the early stage of the pregnancy (10-12 weeks). There were 5 healthy and 5 affected fetuses found. The advantage of this method, that in certain cases, diagnosis is available for families having no live affected child.

摘要

作者对囊性纤维化产前诊断的最新方法进行了综述。从他们自己的病例中选取实例,以说明基于CFTR基因突变分析进行产前诊断的可能性。同时采用突变和单倍型分析,对妊娠早期(10 - 12周)采集的绒毛膜绒毛样本进行了10例产前诊断。发现5例胎儿健康,5例患病。该方法的优点是,在某些情况下,可为没有存活的患病子女的家庭提供诊断。

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