囊性纤维化跨膜传导调节因子（CFTR）基因IVS8中CA/GT微卫星多态性分析：一项针对意大利囊性纤维化家族的研究。

Analysis of CA/GT microsatellite polymorphism in IVS8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a study of Italian CF families.

作者信息

Restagno G, Garnerone S, Gennaro C, Ferrone M, Carbonara A

机构信息

Servizio Universitario di Genetica Medica, USSL VIII, Ospedale Molinette, Torino, Italy.

出版信息

Clin Genet. 1992 Dec;42(6):309-13. doi: 10.1111/j.1399-0004.1992.tb03262.x.

DOI:10.1111/j.1399-0004.1992.tb03262.x

PMID:1283566

Abstract

Forty-six CF Italian patients and their parents were screened for a highly polymorphic microsatellite consisting of a variable number of CA/GT repeats in intron 8 of the CFTR gene. A strong degree of association was found between alleles 2 and 6 and the CF mutation delta F508. Moreover, considering the haplotypes at the closely linked locus D7S23 and the microsatellite's alleles, a strong linkage disequilibrium was again found for delta F508 and also for non-delta F508 CF chromosomes and the eight commonest haplotypes (B2, B6, C7, A6, A7, B7, D2 and D7). These data, compared with those described in the Spanish population, further support the common origin of the delta F508 mutation in Southern European populations.

摘要

对46名患有囊性纤维化（CF）的意大利患者及其父母进行了筛查，检测CFTR基因第8内含子中由可变数量的CA/GT重复序列组成的高度多态性微卫星。发现等位基因2和6与CF突变ΔF508之间存在高度关联。此外，考虑紧密连锁位点D7S23的单倍型和微卫星的等位基因，再次发现ΔF508以及非ΔF508 CF染色体与八种最常见的单倍型（B2、B6、C7、A6、A7、B7、D2和D7）之间存在强烈的连锁不平衡。与西班牙人群中描述的数据相比，这些数据进一步支持了ΔF508突变在南欧人群中的共同起源。