与一种X连锁智力迟钝、小头畸形和痉挛性双侧瘫综合征（MRX2）相关基因的连锁研究。

Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2).

作者信息

Sutherland G R, Gedeon A K, Haan E A, Woodroffe P, Mulley J C

机构信息

Cytogenetics Unit, Adelaide Children's Hospital, Australia.

出版信息

Am J Med Genet. 1988 May-Jun;30(1-2):493-508. doi: 10.1002/ajmg.1320300152.

DOI:10.1002/ajmg.1320300152

PMID:3177467

Abstract

A family in which a gene (MRX2) is segregating for an X-linked syndrome of mental retardation, short stature, microcephaly, brachycephaly, spastic diplegia, small testes and possible intra-uterine growth retardation is described. There are 7 clearly affected males and one possibly affected infant in the family. The obligate carriers are normal. Linkage studies show a suggestion of linkage to loci near the centromere. The maximum lod score was 2.10 at theta = 0.11 for DXYS1, assuming the possibly affected male carried the MRX2 gene. There were lower lod scores suggestive of linkage with DXS7 (theta = 0.14; z = 1.29) and DXS94 (theta = 0.11; z = 1.22).

摘要

描述了一个家系，其中一个基因（MRX2）与一种X连锁综合征相关联，该综合征表现为智力发育迟缓、身材矮小、小头畸形、短头畸形、痉挛性双侧瘫、小睾丸以及可能的宫内生长迟缓。家系中有7名明确受影响的男性和1名可能受影响的婴儿。必然携带者表现正常。连锁研究显示有与着丝粒附近位点连锁的迹象。假设可能受影响的男性携带MRX2基因，对于DXYS1，在θ = 0.11时最大对数优势得分为2.10。还有较低的对数优势得分提示与DXS7（θ = 0.14；z = 1.29）和DXS94（θ = 0.11；z = 1.22）连锁。