Summary
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 ΔF508 mutation (i.e. with at least one parent not carrying ΔF508) 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.
References
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Mornet, E., Chateau, C., Simon-Bouy, B. et al. Carrier detection and prenatal diagnosis of cystic fibrosis using an intragenic TA-repeat polymorphism. Hum Genet 88, 479–481 (1992). https://doi.org/10.1007/BF00215687
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DOI: https://doi.org/10.1007/BF00215687