delta F508 deletion in cystic fibrosis in Italian families.
作者信息
Restagno G, Garnerone S, Gennaro C, Varetto O, Ansaldi N, Castello D, Santini B, Carbonara A O
机构信息
Dipartimento di Genetica, Università di Torino, Turin, Italy.
出版信息
Hum Genet. 1990 Sep;85(4):422-3. doi: 10.1007/BF02428293.
PMID:1976596
Abstract
In 20 Italian families with cystic fibrosis (CF), restriction fragment length polymorphisms were detected by five linked markers; a strong linkage disequilibrium is observed between the haplotype B (alleles 2/1 with respect to KM19/XV2c) and CF. The frequency of the delta F508 deletion in CF chromosomes of this sample is 50%. A significant correlation is found between the absence of the delta F508 mutation and pancreatic sufficiency.
摘要
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