波兰囊性纤维化等位基因的微卫星单倍型：ΔF508染色体呈现出南北单倍型频率梯度。

Microsatellite haplotypes of Polish cystic fibrosis alleles: delta F508 chromosomes demonstrate a North-South haplotype frequency gradient.

作者信息

Witt M, Reis A, Cichy W, Dziechciowska K

机构信息

Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland.

出版信息

Hum Hered. 1996 Nov-Dec;46(6):310-4. doi: 10.1159/000154370.

DOI:10.1159/000154370

PMID:8956026

Abstract

Analysis of haplotypes of three intragenic, highly polymorphic microsatellite markers (IVS8CA, IVS17BTA, IVS17BCA) of the CFTR gene was performed on a sample of 96 CF chromosomes of Polish origin. Twenty different haplotypes were detected in delta F508 chromosomes. Of these, four haplotypes (23-31-13; 23-32-13; 17-31-13; 17-32-13) represent 67.1% of the overall pool of delta F508 chromosomes. Distribution of these haplotypes, together with frequencies of the delta F508 mutation, are intermediate between Northern- and Southern-European populations and correlate with established gradients.

摘要

对来自波兰的96条囊性纤维化（CF）染色体样本，进行了CFTR基因的三个基因内高度多态微卫星标记（IVS8CA、IVS17BTA、IVS17BCA）单倍型分析。在ΔF508染色体中检测到20种不同单倍型。其中，四种单倍型（23 - 31 - 13；23 - 32 - 13；17 - 31 - 13；17 - 32 - 13）占ΔF508染色体总库的67.1%。这些单倍型的分布以及ΔF508突变的频率，介于北欧和南欧人群之间，并与既定梯度相关。