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非综合征性X连锁智力障碍:MRX29基因定位到Xp21区域的综述与定位研究

Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21.

作者信息

Häne B, Schroer R J, Arena J F, Lubs H A, Schwartz C E, Stevenson R E

机构信息

J. C. Self Research Institute, Greenwood Genetic Center, South Carolina 29646, USA.

出版信息

Clin Genet. 1996 Oct;50(4):176-83. doi: 10.1111/j.1399-0004.1996.tb02622.x.

DOI:10.1111/j.1399-0004.1996.tb02622.x
PMID:9001795
Abstract

The gene responsible for nonsyndromic mental retardation in a family with 7 affected males has been localized to Xp21. The maximal two-point lod score was 3.31 for tight linkage to marker DXS1202 in Xp21.3-p22.3 with crossovers between the 3' portion of the DMD gene (DXS1234) proximally and locus DXS989 distally. The XLMR gene in this family has been assigned the designation MRX29. The localization overlaps with at least six other MRX entities linked to the distal short arm of the X chromosome.

摘要

在一个有7名患病男性的家族中,导致非综合征性智力迟钝的基因已被定位到Xp21。与Xp21.3 - p22.3区域的标记DXS1202紧密连锁的最大两点连锁值为3.31,近端DMD基因(DXS1234)的3'部分与远端位点DXS989之间存在交叉。该家族中的X连锁智力迟钝基因已被命名为MRX29。该定位与至少其他六个与X染色体短臂远端连锁的MRX实体重叠。

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