支持囊性纤维化与met癌基因之间联系的进一步数据以及met和pJ3.11的单倍型分析。

Further data supporting linkage between cystic fibrosis and the met oncogene and haplotype analysis with met and pJ3.11.

作者信息

Farrall M, Watson E, Bates G, Bell G, Bell J, Davies K A, Estivill X, Kruyer H, Law H Y, Lench N

出版信息

Am J Hum Genet. 1986 Dec;39(6):713-9.

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1684134/

Abstract

The linkage of cystic fibrosis (CF) and the polymorphic DNA markers pJ3.11, met, 7C22, DOCR1-917, COL1A2, and TCRB have jointly localized the mutation causing CF to chromosome 7q2.1-3.1. We report further linkage data with two polymorphic markers at the met oncogene locus, pmetH and pmetD, which supports the tight linkage found by White et al. between CF and met. One family shows evidence for meiotic recombination between CF and met. Analysis of haplotypes in CF pedigrees collected for linkage studies combined with data from single affected families requesting prenatal diagnosis (Farrall et al., Lancet i:1402-1404, 1986) shows CF and met to be in linkage equilibrium in our population while pJ3.11-CF haplotypes show a deviation from the equilibrium frequencies.

摘要

囊性纤维化（CF）与多态性DNA标记pJ3.11、met、7C22、DOCR1 - 917、COL1A2和TCRB的连锁分析共同将导致CF的突变定位到7号染色体的7q2.1 - 3.1区域。我们报告了met癌基因位点上两个多态性标记pmetH和pmetD的进一步连锁数据，这些数据支持了怀特等人发现的CF与met之间的紧密连锁关系。有一个家系显示出CF与met之间存在减数分裂重组的证据。对为连锁研究收集的CF家系单倍型进行分析，并结合来自请求进行产前诊断的单个患病家庭的数据（法拉尔等人，《柳叶刀》i：1402 - 1404，1986），结果表明在我们的人群中CF与met处于连锁平衡状态，而pJ3.11 - CF单倍型显示出偏离平衡频率的情况。

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Strategies for multilocus linkage analysis in humans.人类多位点连锁分析策略。

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J Clin Invest. 1984 Jun;73(6):1763-71. doi: 10.1172/JCI111385.

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