使用DNA探针进行囊性纤维化分型及对法国南部家庭进行ΔF508缺失筛查。

Cystic fibrosis typing with DNA probes and screening for delta F508 deletion in families from southern France.

作者信息

Claustres M, Desgeorges M, Kjellberg P, Bellet H, Demaille J, Ramsay M

机构信息

INSERM U 249, CNRS UPR 8402, Montpellier, France.

出版信息

Hum Genet. 1990 Sep;85(4):398-9. doi: 10.1007/BF02428274.

DOI:10.1007/BF02428274

PMID:1976591

Abstract

A sample of 235 individuals from 49 French cystic fibrosis (CF) families with at least one living affected child was typed with probes for restriction fragment length polymorphisms (RFLPs) known to be linked to the CF gene, and was screened for the delta F508 mutation. Using a combination of six probes, 44 out of the 49 families were sufficiently informative to enable prenatal diagnosis or carrier determination. As in many other populations, linkage disequilibrium was found between the CF locus and the haplotype B (XV2c: allele 1; KM19: allele 2), which accounts for about 78% of CF chromosomes in our families. The delta F508 deletion was present in 64.3% of CF chromosomes.

摘要

从49个法国家庭中选取了235名个体作为样本，这些家庭中至少有一个存活的患病儿童，用已知与囊性纤维化（CF）基因连锁的限制性片段长度多态性（RFLP）探针进行分型，并筛查ΔF508突变。使用六种探针的组合，49个家庭中有44个具有足够的信息，可用于产前诊断或携带者检测。与许多其他人群一样，在CF基因座与单倍型B（XV2c：等位基因1；KM19：等位基因2）之间发现了连锁不平衡，在我们的家庭中，该单倍型约占CF染色体的78%。ΔF508缺失存在于64.3%的CF染色体中。