一个非特异性X连锁智力迟钝基因（MRX 75）定位于Xq24-q26。

Mapping of a gene for nonspecific X-linked mental retardation (MRX 75) to Xq24-q26.

作者信息

Caspari R, Uhlhaas S, Friedl W, Knapp M, Propping P

机构信息

Medizinische Klinik I, Universität Bonn, Germany.

出版信息

Am J Med Genet. 2000 Aug 14;93(4):290-3. doi: 10.1002/1096-8628(20000814)93:4<290::aid-ajmg7>3.0.co;2-m.

DOI:10.1002/1096-8628(20000814)93:4<290::aid-ajmg7>3.0.co;2-m

PMID:10946355

Abstract

Nonspecific X-linked mental retardation is a heterogeneous condition consisting of nonsyndromal mental retardation in males. It is caused by mutation in one of several genes on the X chromosome (MRX genes). Here we report on the localization of a presumptive MRX gene to chromosomal region Xq24-q26 in a German family with nonspecific X-linked mental retardation (MRX 75, HUGO Human Gene Nomenclature Committee). Two point linkage analysis with 23 informative markers gave a lod score of 2.53 at theta = 0 for markers DXS425, DXS1254, DXS1114, and HPRT.

摘要

非特异性X连锁智力迟钝是一种异质性疾病，表现为男性非综合征性智力迟钝。它由X染色体上几个基因（MRX基因）之一的突变引起。本文我们报告了在一个患有非特异性X连锁智力迟钝的德国家庭（MRX 75，HUGO人类基因命名委员会）中，一个推定的MRX基因定位于染色体区域Xq24 - q26。使用23个信息性标记进行两点连锁分析，在θ = 0时，标记DXS425、DXS1254、DXS1114和HPRT的连锁值为2.53。