AI Article Synopsis
- High genetic variation in CFTR mutations complicates cystic fibrosis diagnosis, especially in patients with rare mutations.
- Molecular strategies like targeting common mutations and linkage analysis are effective for identifying carriers and conducting prenatal diagnoses in affected families.
- The study successfully diagnosed cystic fibrosis in a 14-week fetus by identifying a known mutation inherited from the mother and an unknown mutation from the father through chromosome analysis.
Article Abstract
Introduction: 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.
Material And Methods: 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).
Results: We determined that the fetus inherited the PG542X mutation from its mother and an unknown mutation from its father through the chromosomal phases analysis.
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