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对神经纤维瘤病与限制性片段长度多态性(RFLPs)进行连锁分析的基因组搜索。

A genomic search for linkage of neurofibromatosis to RFLPs.

作者信息

Barker D, Wright E, Nguyen K, Cannon L, Fain P, Goldgar D, Bishop D T, Carey J, Kivlin J, Willard H

机构信息

Department of Medical Informatics, University of Utah Medical Center, Salt Lake City.

出版信息

J Med Genet. 1987 Sep;24(9):536-8. doi: 10.1136/jmg.24.9.536.

Abstract

Our initial attempt to map NF was directed towards chromosomes 4 and 19, both of which had provided positive evidence for linkage in previous reports. This analysis showed no evidence in support of either hypothesis. Our second attempt at mapping NF was a general search of the genome, analysing a set of markers selected according to their degree of polymorphism, chromosomal location, ease of use, and availability. Data for linkage analysis were obtained from 17 multiplex families which are segregating a gene for NF. Linkage analyses were performed using PAP. Of note is the lod score of +1.17 at a recombination fraction of 0.1 between NF and the centromere of chromosome 17.

摘要

我们最初定位神经纤维瘤(NF)的尝试针对4号和19号染色体,在之前的报告中这两条染色体都提供了连锁的阳性证据。该分析未显示支持任何一种假设的证据。我们第二次定位NF的尝试是对基因组进行全面搜索,分析一组根据其多态性程度、染色体位置、易用性和可得性选择的标记。连锁分析的数据来自17个分离NF基因的多重家庭。使用PAP进行连锁分析。值得注意的是,在NF与17号染色体着丝粒之间的重组率为0.1时,lod分数为+1.17。

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