ASSOCIATION BETWEEN XV2C/CS7/KM19/D9 HAPLOTYPES AND THE DELTA-F508 MUTATION - A STUDY OF 57 BELGIAN FAMILIES

被引：2

作者：

CUPPENS, H ^{[1
]}

LEGIUS, E ^{[1
]}

CABELLO, P ^{[1
]}

MARYNEN, P ^{[1
]}

DEBOECK, C ^{[1
]}

DECORTE, R ^{[1
]}

FRYNS, JP ^{[1
]}

EGGERMONT, E ^{[1
]}

VANDENBERGHE, H ^{[1
]}

CASSIMAN, JJ ^{[1
]}

机构：

[1] UNIV HOSP LEUVEN,DIV PEDIAT,LOUVAIN,BELGIUM

来源：

HUMAN GENETICS | 1990年 / 85卷 / 04期

关键词：

D O I：

10.1007/BF02428277

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Using Southern blotting and the polymerase chain reaction, the prevalence of the haplotypes for XV2c, CS7, KM19 and D9 on CF and on normal chromosomes could be determined in 35 Belgian families. A set of primers complementary to the DNA sequence of the CF gene around the ΔF508 deletion was used to amplify this particular segment of the gene. In a total of 57 families, deletion screening showed that 69 out of 116 CF chromosomes (59.5%) carried the ΔF508 deletion. Both the ΔF508 deletion and another mutation(s) showed strong association with the haplotype 1-2-2-2. © 1990 Springer-Verlag.

引用

页码：402 / 403

页数：2