THE INCIDENCE OF DELTA-F508 CF MUTATION, AND ASSOCIATED HAPLOTYPES, IN A SAMPLE OF ENGLISH CF FAMILIES

被引：7

作者：

WATSON, EK

MAYALL, ES

SIMOVA, L

THOMPSON, EM

WARNER, JO

WILLIAMSON, R

WILLIAMS, C

机构：

[1] MACEDONIAN ACAD SCI & ARTS,NEW TECHNOL RES CTR,YU-91000 SKOPJE,YUGOSLAVIA

[2] BROMPTON HOSP,DEPT PAEDIAT,LONDON SW3 6HP,ENGLAND

来源：

HUMAN GENETICS | 1990年 / 85卷 / 04期

关键词：

D O I：

10.1007/BF02428303

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Data are presented for ΔF508 screening and KM19/XV2c haplotype analysis of 195 cystic fibrosis (CF) chromosomes from the British Caucasian population. We report the frequency of ΔF508 in this group to be 80% and find pronounced disequilibrium between the deletion and the KM 2, XV 1 haplotype. Haplotype analysis of 71 normal chromosomes is also presented. We report one individual who had meconium ileus and who does not have the ΔF508 mutation on either chromosome. © 1990 Springer-Verlag.

引用

页码：435 / 436

页数：2