挪威囊性纤维化患者中ΔF508和第11外显子突变的频率。

Frequency of the delta F508 and exon 11 mutations in Norwegian cystic fibrosis patients.

作者信息

Eiklid K, Tranebjaerg L, Eiken H G, Pedersen J C, Michalsen H, Fluge G, Schwartz M, Nilsen B R, Bolle R, Skyberg D

机构信息

Department of Medical Genetics, Ullevål University Hospital, Blindern, Oslo, Norway.

出版信息

Clin Genet. 1993 Jul;44(1):12-4. doi: 10.1111/j.1399-0004.1993.tb03834.x.

DOI:10.1111/j.1399-0004.1993.tb03834.x

PMID:7691448

Abstract

We have searched for the delta F508 mutation in 77 Norwegian cystic fibrosis patients. Of the 154 chromosomes tested, 93 (60%) carried the delta F508 mutation. Haplotypes at the D7S23 locus (KM19 and XV2C markers) were determined. Of 81 chromosomes with the F508 mutation, the B haplotype was found on 77. We found three patients with the G551D and one patient with the R553X mutation in exon 11 of the CFTR locus.

摘要

我们对77名挪威囊性纤维化患者进行了ΔF508突变检测。在检测的154条染色体中，93条（60%）携带ΔF508突变。确定了D7S23位点（KM19和XV2C标记）的单倍型。在81条携带F508突变的染色体中，发现77条具有B单倍型。我们在CFTR基因座第11外显子中发现3名携带G551D突变的患者和1名携带R553X突变的患者。