DISTRIBUTION OF THE DELTA-F508 MUTATION IN 194 SPANISH CYSTIC-FIBROSIS FAMILIES

被引：13

作者：

CHILLON, M ^{[1
]}

NUNES, V ^{[1
]}

CASALS, T ^{[1
]}

GIMENEZ, FJ ^{[1
]}

FERNANDEZ, E ^{[1
]}

BENITEZ, J ^{[1
]}

ESTIVILL, X ^{[1
]}

机构：

[1] FDN JIMENEZ DIAZ,DEPT GENET,E-28040 MADRID,SPAIN

来源：

HUMAN GENETICS | 1990年 / 85卷 / 04期

关键词：

D O I：

10.1007/BF02428272

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Spanish cystic fibrosis (CF) families (n = 194) have been analysed for the ΔF508 mutation, and for closely linked DNA markers. The ΔF508 mutation accounts for 50% of CF chromosomes. Four haplotypes are associated with the deletion, and at least seven haplotypes carry other mutations. The second major CF mutation is associated with pancreatic insufficiency and occurred in the same haplotype in which the ΔF508 arose. Only 31% of Spanish CF patients with no family history of the disease can be accurately diagnosed; about 50% of CF carriers can be detected in the Spanish population. © 1990 Springer-Verlag.

引用

页码：396 / 397

页数：2