FREQUENCY OF THE DELTA-F508 MUTATION AND FLANKING MARKER HAPLOTYPES AT THE CF LOCUS FROM 167 CZECH FAMILIES

被引：6

作者：

MACEK, M

VAVROVA, V

BOHM, I

STUHRMANN, M

REIS, A

DUSPIVOVA, R

MACEK, M

SPERLING, K

KRAWCZAK, M

SCHMIDTKE, J

机构：

[1] FREE UNIV BERLIN,INST HUMANGENET,W-1000 BERLIN 19,GERMANY

[2] CHARLES UNIV,FAC PEDIAT,INST CHILD DEV RES,CS-15600 PRAGUE 5,CZECHOSLOVAKIA

[3] CHARLES UNIV,FAC PEDIAT,DEPT MED GENET,CS-15600 PRAGUE 5,CZECHOSLOVAKIA

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

来源：

HUMAN GENETICS | 1990年 / 85卷 / 04期

关键词：

D O I：

10.1007/BF02428289

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

This study analyses distribution patterns of the ΔF508 mutation of the cystic fibrosis transmembrane conductance regulator gene (CFTR) gene and the cystic fibrosis (CF)-linked marker loci MET, D7S23, D7S399, and D7S8 in a sample of 167 (116 complete) CF families from Bohemia and Moravia (Czechoslovakia). DNA typing was performed by polymerase chain reaction amplification, restriction analysis, and agarose or polyacrylamide gel electrophoresis. The frequency of the ΔF508 mutation in this sample is 67% and the frequency of the B haplotype is 77.6% on CF chromosomes. Linkage disequilibrium was found between ΔF508 and all markers tested. © 1990 Springer-Verlag.

引用

页码：417 / 418

页数：2