Linkage of the DNA-segment D7S13 (pB79a) with the cystic fibrosis locus
✍ Scribed by D. Böhm; M. Krawczak; J. Schmidtke
- Book ID
- 104700270
- Publisher
- Springer
- Year
- 1988
- Tongue
- English
- Weight
- 226 KB
- Volume
- 78
- Category
- Article
- ISSN
- 0340-6717
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In 1989 the gene responsible for cystic fibrosis (CF) was cloned (Riordan et al., 1989;Rommens et al., 1989). A deletion of 3 base pairs in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene resulting in the loss of the amino acid phenylalanine at position 508 of the enco
The PstI polymorphism detected by probe KM19 is a highly informative marker in linkage disequilibrium with the cystic fibrosis locus and has been used extensively for prenatal diagnosis. The currently available primers used for polymerase chain reaction- (PCR-) based analysis of this locus have been