DISTRIBUTION PATTERNS OF THE DELTA-F508 MUTATION IN THE CFTR GENE ON CF-LINKED MARKER HAPLOTYPES IN THE GERMAN POPULATION

被引：11

作者：

REIS, A

BREMER, S

SCHLOSSER, M

DUECK, M

BOHM, I

HUNDRIESER, J

MACEK, M

STUHRMANN, M

WAGNER, M

DORK, T

SCHNIEDERS, F

POSSELT, HG

WAHN, U

REISS, J

TREFZ, FK

TUMMLER, B

KRAWCZAK, M

SCHMIDTKE, J

机构：

[1] UNIV GOTTINGEN,INST HUMANGENET,W-3400 GOTTINGEN,GERMANY

[2] UNIV HEIDELBERG,KINDERKLIN,W-6900 HEIDELBERG,GERMANY

[3] UNIV FRANKFURT,KINDERKLIN,W-6000 FRANKFURT,GERMANY

[4] FREE UNIV BERLIN,KLINIKUM CHARLOTTENBURG,KINDERKLIN,W-1000 BERLIN 19,GERMANY

[5] MED HSCH HANOVER,BIOPHYS CHEM ABT,W-3000 HANOVER 61,GERMANY

[6] MED HSCH HANOVER,HUMANGENET ABT,W-3000 HANOVER 61,GERMANY

来源：

HUMAN GENETICS | 1990年 / 85卷 / 04期

关键词：

D O I：

10.1007/BF02428292

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We have measured the frequency of the ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and its association with cystic fibrosis (CF)-linked marker haplotypes in the German population. Based on the analysis of 400 CF chromosomes, the frequency of the ΔF508 mutation is estimated to be 77.3%, the vast majority being associated with marker haplotype KM19-XV2c 2 1. Our data further suggest the presence of another frequent CF mutation associated with this marker haplotype. © 1990 Springer-Verlag.

引用

页码：421 / 422

页数：2