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Prenatal screening of Cystic Fibrosis: a single centre exeperience

机译:产前筛查囊性纤维化:单中心经验

摘要

The gene responsible for the pathogenesis of cystic fibrosis has been known for over 15 years (1, 2). Cystic fibrosis is the most common autosomal recessive disease in the european population (3). More that 1500 mutations and a large number of polymorphisms have been identified so far from 1989. In the past 10 years we examined in our centre 25393 fetuses. The exams brought to the identification 0f 922 heterozygous and 9 homozygous for the mutation. The frequency of heterozygous in the examined sample was 1/27,5 while that of the affected was 1/2821. We carried out the examination of the most frequent mutations which enable, according to the literature data, the identification of almost 80% of the affected alleles (4-8).
机译:导致囊性纤维化发病机制的基因已超过15年了(1,2)。囊性纤维化是欧洲人口中最常见的常染色体隐性遗传疾病(3)。从1989年至今,已经鉴定出1500多种突变和大量的多态性。在过去的10年中,我们在中心研究了25393例胎儿。这些检查使该突变的杂合子为0f 922,纯合子为9。所检查样品的杂合频率为1 / 27,5,而受影响样品的杂合频率为1/2821。我们对最常见的突变进行了检查,根据文献数据,这些突变几乎可以鉴定出受影响的等位基因的80%(4-8)。

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