Identification of the Linkage of Mutations Causing Cystic Fibrosis to Different Alleles of a Tetranucleotide Repeat in Intron 6a of the CFTR Gene

Autor: Potapova, O.Y., Voronina, O.V., Gaitskhoki, V.S., Bogacheva, E.V., Uembitskaya, T.E., Kuprina, E.A., Kapranov, N.I., Berlin, Y.A., Schwartz, E.I.
Zdroj: Biochemical Medicine and Metabolic Biology; April 1994, Vol. 51 Issue: 2 p185-187, 3p
Abstrakt: The linkage of the intragenic polymorphic (GATT)n repeat to a number of cystic fibrosis transmembrane conductance regulator gene mutations (Δ F-508, G542X, G551D, R553X, R1162X, W1282X, N1303K, R334W, and R347P) was studied. The linkage of Δ F-508, G542X, and N1303K to a six-copy allele and of R334W to a seven-copy allele of the repeat was found.Copyright 1994, 1999 Academic Press, Inc.
Databáze: Supplemental Index