Carrier detection and prenatal diagnosis of cystic fibrosis using an intragenic TA-repeat polymorphism

✍ Scribed by Etienne Mornet; Corinne Chateau; Brigitte Simon-Bouy; Joelle Boue; Julian Zielenski; Lap Chee Tsui; André Boue

• Publisher: Springer
• Year: 1992
• Tongue: English
• Weight: 344 KB
• Volume: 88
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00215687

✦ Synopsis

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 delta F508 mutation (i.e. with at least one parent not carrying delta F508) 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.