意大利家庭中囊性纤维化与相关DNA多态性之间的连锁不平衡：一项合作研究。

Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study.

作者信息

Estivill X, Farrall M, Williamson R, Ferrari M, Seia M, Giunta A M, Novelli G, Potenza L, Dallapicolla B, Borgo G

机构信息

Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, London, United Kingdom.

出版信息

Am J Hum Genet. 1988 Jul;43(1):23-8.

PMID:2897786

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1715296/

Abstract

The locus D7S23 includes a CpG-enriched methylation-free island that maps midway between the markers J3.11 and met and is genetically very close to the mutation causing cystic fibrosis (CF). We have studied the linkage disequilibrium between four polymorphic markers from this locus (KM.19, CS.7, XV-2c, and PT-3) and the CF mutation (CF) in 127 Italian families. Strong linkage disequilibrium is found between KM.19, CS.7, and CF, and weaker but significant disequilibrium is found between XV-2c, PT-3, and CF. The disequilibrium between markers and CF for the Italian population provides additional information on the origin and homogeneity of the CF defect. This panel of probes is sufficiently informative to permit accurate prenatal diagnosis of CF in most families with an affected person, and the disequilibrium also allows indirect carrier detection/exclusion in some cases.

摘要

基因座D7S23包含一个富含CpG的无甲基化岛，该岛位于标记J3.11和met之间的中间位置，并且在遗传上与导致囊性纤维化（CF）的突变非常接近。我们研究了该基因座的四个多态性标记（KM.19、CS.7、XV-2c和PT-3）与127个意大利家庭中的CF突变（CF）之间的连锁不平衡。在KM.19、CS.7和CF之间发现了强连锁不平衡，在XV-2c、PT-3和CF之间发现了较弱但显著的不平衡。意大利人群中标记与CF之间的不平衡为CF缺陷的起源和同质性提供了额外信息。这组探针具有足够的信息量，能够在大多数有患者的家庭中进行准确的CF产前诊断，并且这种不平衡在某些情况下还允许进行间接携带者检测/排除。