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

Author:

Mornet Etienne,Chateau Corinne,Simon-Bouy Brigitte,Boue Joelle,Zielenski Julian,Chee Tsui Lap,Boue André

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference5 articles.

1. Chehab EF, Johnson J, Louie E, Goossens M, Kawasaki E, Erlich H (1991) A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the ΔF508 mutation: implications for prenatal diagnosis and mutation origin. Am J Hum Genet 48:223–226

2. EWGCFG (1990) Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. Hum Genet 85:436–441

3. Kerem B, Rommens JM, Buchanan D, Markiewicz TK, Cox A, Chakravarti M, Buchwald M, Tsui LC (1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245:1073–1089

4. Simon-Bouy B, Mornet E, Serre JL, Taillandier A, Boué J, Boué A (1991) Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients. Clin Genet 40:218–224

5. Zielenski J, Markiewicz D, Rininsland F, Rommens JR, Tsui LC (1991) A cluster of highly polymorphic dinucleotide repeats in intron 17b of the CFTR gene. Am J Hum Genet (in press)

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