LINKED MARKER HAPLOTYPES AND THE DELTA-F508 MUTATION IN ADULTS WITH MILD PULMONARY-DISEASE AND CYSTIC-FIBROSIS

被引：51
|
作者：
SANTIS, G
OSBORNE, L
KNIGHT, RA
HODSON, ME
机构：
[1] Department of Cystic Fibrosis, National Heart and Lung Institute, Royal Brompton and National Heart Hospital, London
来源：
LANCET | 1990年 / 335卷 / 8703期
关键词：
D O I：
10.1016/0140-6736(90)91448-J
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
The frequencies of the ΔF508 mutation and haplotypes at the loci linked to the cystic fibrosis (CF) gene have been compared in adult CF patients with very mild and with severe lung disease. In patients who are compound heterozygotes for the ΔF508 mutation, or who lack the mutation on both chromosomes, the as yet undefined mutations may influence the severity of lung involvement. In patients homozygous for the ΔF508 mutation, non-genetic factors cannot fully account for variation in the severity of lung disease. Genes outside the CF locus may influence clinical expression of the disease. © 1990.
引用
收藏
页码：1426 / 1429
页数：4
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