MOLECULAR-DATA ON CYSTIC-FIBROSIS IN BULGARIA

被引：7

作者：

KALAYDJIEVA, L ^{[1
]}

ANTOV, J ^{[1
]}

BRONZOVA, J ^{[1
]}

VLADIMIROVA, V ^{[1
]}

HORST, J ^{[1
]}

机构：

[1] UNIV MUNSTER,INST HUMANGENET,W-4400 MUNSTER,GERMANY

来源：

HUMAN GENETICS | 1990年 / 85卷 / 04期

关键词：

D O I：

10.1007/BF02428285

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A group of 42 cystic fibrosis (CF) patients and 80 heterozygote carriers was analysed for determining the prevalent CF haplotypes and the frequency of ΔF508. The "high-risk" haplotype B (XV2c-KM19/1 2) was found in 66% of CF chromosomes. The prevalent normal haplotypes were A (1 1) and B (2 1). The deletion was detected in 54 CF chromosomes (56%), homozygotes constituting 35% of all CF patients. In 88% of cases the mutation was linked to haplotype B, and in 12% to haplotype D (2 2). Chromosomes that did not have ΔF508 were found to be evenly distributed among all four XV2c-KM19 haplotypes. The use of restriction fragment length polymorphisms and direct detection of the mutation makes 94% of CF families fully informative for prenatal analysis. © 1990 Springer-Verlag.

引用

页码：412 / 413

页数：2