比利时囊性纤维化患者CF基因中苯丙氨酸缺失（ΔF508）的频率。

Frequency of the phenylalanine deletion (delta F508) in the CF gene of Belgian cystic fibrosis patients.

作者信息

Wauters J G, Hendrickx J, Coucke P, Vits L, Stuer K, van Schil L, van der Auwera B J, Van Elsen A, Dumon J, Willems P J

机构信息

Department of Medical Genetics, University of Antwerp-U.I.A., Belgium.

出版信息

Clin Genet. 1991 Feb;39(2):89-92. doi: 10.1111/j.1399-0004.1991.tb02992.x.

DOI:10.1111/j.1399-0004.1991.tb02992.x

PMID:1673094

Abstract

Cloning and sequencing of the CF gene has identified a three-base-pair deletion (delta F508) responsible for CF in the majority of CF patients (Kerem et al. 1989). We have used the polymerase chain reaction with oligonucleotide primers bridging the delta F508 deletion to analyze the presence or absence of this mutation in the Belgian CF population. The delta F508 mutation was present in 80% (57 on 71) of CF chromosomes from 36 unrelated Belgian CF families from the region of Antwerp. This mutation was associated with haplotype B for the KM.19-XV-2c RFLPs as 93% (53 on 57) of the CF chromosomes with the delta F508 mutation carried haplotype B.

摘要

囊性纤维化（CF）基因的克隆和测序已确定一个三碱基对缺失（ΔF508），该缺失是大多数CF患者患CF的病因（凯雷姆等人，1989年）。我们使用聚合酶链反应及跨越ΔF508缺失区域的寡核苷酸引物，来分析比利时CF患者群体中该突变的有无。在来自安特卫普地区36个无亲缘关系的比利时CF家族的71条CF染色体中，80%（57条）存在ΔF508突变。该突变与KM.19-XV-2c限制性片段长度多态性（RFLPs）的单倍型B相关，因为93%（57条中的53条）携带ΔF508突变的CF染色体具有单倍型B。