THE HAPLOTYPE DISTRIBUTION OF THE DELTA-F508 MUTATION IN CYSTIC-FIBROSIS FAMILIES IN SCOTLAND

被引：11

作者：

MCINTOSH, I ^{[1
]}

CURTIS, A ^{[1
]}

LORENZO, ML ^{[1
]}

KESTON, M ^{[1
]}

GILFILLAN, AJ ^{[1
]}

MORRIS, G ^{[1
]}

BROCK, DJH ^{[1
]}

机构：

[1] DUNCAN GUTHRIE INST MED GENET,GLASGOW G3 8SJ,SCOTLAND

来源：

HUMAN GENETICS | 1990年 / 85卷 / 04期

关键词：

D O I：

10.1007/BF02428290

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The gene defective in cystic fibrosis (CF) has recently been isolated and the major mutation identified. The haplotype distribution of this mutation (ΔF508) has been determined for 215 CF chromosomes in the Scottish population. ΔF508 represents 73% of all CF mutations in this group. There remains considerable linkage disequilibrium between XV2c and KM19 and other mutations in the CF gene. © 1990 Springer-Verlag.

引用

页码：419 / 420

页数：2