A CA Repeat in the First Intron of the CFTR Gene
作者:
Danielle S. Moulin,
Annabel N. Smith,
Ann Harris,
期刊:
Human Heredity
(Karger Available online 1997)
卷期:
Volume 47,
issue 5
页码: 295-297
ISSN:0001-5652
年代: 1997
DOI:10.1159/000154427
出版商: S. Karger AG
关键词: CA repeat CFTR
数据来源: Karger
摘要:
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, that encompasses 250 kb of genomic DNA, cause cystic fibrosis. More than 5-10% of CF patients in most populations studied carry undefined mutations and hence intragenic CA repeats are important tools in genetic counselling. To date, polymorphic intragenic repeats have been found in introns 6a, 8 and 17b. We have identified a novel CA repeat within intron 1 of the CFTR gene that lies about 70 kb 5’ to intron 6a and so will be a useful additional diagnostic marke
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