Chávez-Saldaña Margarita, García-Cavazos Ricardo, Vigueras Rosa María, Orozco Lorena
Rev Invest Clin. 2011 Jul-Aug;63(4):433-5.
The high genetic heterogeneity in populations with a wide spectrum of mutations in the CF transmembrane conductance regulator gene (CFTR), makes the detection of mutations a very hard and difficult task, thereby limiting the accurate diagnosis of the disease, mainly in patients with uncharacterized mutations.
Molecular strategies, like targeted identification of the most frequent CFTR mutations in Mexican population combined with linkage analysis using markers, is very useful for carrier detection and for prenatal diagnosis in affected families with CF. In this paper we show that the combination of methodologies was a crucial alternative to reach a precise prenatal CF diagnosis. We documented CF diagnosis in a 14th-week fetus combining the screening of the most common mutations in Mexican population with linkage analysis of two extragenic polymorphisms (XV2C/TaqI and KM19/PstI).
We determined that the fetus inherited the PG542X mutation from its mother and an unknown mutation from its father through the chromosomal phases analysis.
囊性纤维化跨膜传导调节因子（CFTR）基因存在广泛突变的人群具有高度的基因异质性，这使得突变检测成为一项非常艰巨且困难的任务，从而限制了疾病的准确诊断，主要是针对那些具有未明确突变的患者。
分子策略，如在墨西哥人群中靶向鉴定最常见的CFTR突变，并结合使用标记进行连锁分析，对于CF受累家庭的携带者检测和产前诊断非常有用。在本文中，我们表明方法的结合是实现精确产前CF诊断的关键选择。我们通过结合墨西哥人群中最常见突变的筛查与两个基因外多态性（XV2C/TaqI和KM19/PstI）的连锁分析，对一名孕14周的胎儿进行了CF诊断。
通过染色体相位分析，我们确定胎儿从母亲那里继承了PG542X突变，从父亲那里继承了一个未知突变。
