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确定X连锁性脑积水基因在Xq28区域内的精确遗传定位。

Refining the genetic location of the gene for X linked hydrocephalus within Xq28.

作者信息

Jouet M, Feldman E, Yates J, Donnai D, Paterson J, Siggers D, Kenwrick S

机构信息

Department of Medicine, University of Cambridge.

出版信息

J Med Genet. 1993 Mar;30(3):214-7. doi: 10.1136/jmg.30.3.214.

DOI:10.1136/jmg.30.3.214
PMID:8474107
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016302/
Abstract

The most common inherited form of hydrocephalus, X linked hydrocephalus (HSAS), is characterised by mental retardation, adducted thumbs, and spastic paraplegia. Genetic analysis has mapped the locus for HSAS to subchromosomal band Xq28 within a region of approximately 2 megabases of DNA. In order to refine the location of the disease gene we have conducted genetic linkage analysis with Xq28 marker loci in four additional HSAS families. A lod score of 4.26 with polymorphic marker DXS52 (St14) confirms the linkage of HSAS to Xq28. Identification of a recombination event between the HSAS gene and Xq28 loci F8C and DXS605 (2-19) reduces the size of the interval likely to contain the disease locus to about 1.5 megabases, the distance between DXS605 and DXS52. The locus for neural cell adhesion molecule, L1CAM, maps within this interval and therefore represents a candidate gene for HSAS.

摘要

最常见的遗传性脑积水形式，即X连锁脑积水（HSAS），其特征为智力迟钝、拇指内收和痉挛性截瘫。基因分析已将HSAS的基因座定位到DNA约2兆碱基区域内的亚染色体带Xq28。为了精确确定疾病基因的位置，我们对另外四个HSAS家系进行了Xq28标记基因座的遗传连锁分析。多态性标记DXS52（St14）的对数优势分数为4.26，证实了HSAS与Xq28的连锁关系。HSAS基因与Xq28基因座F8C和DXS605（2-19）之间重组事件的鉴定，将可能包含疾病基因座的区间大小缩小到约1.5兆碱基，即DXS605与DXS52之间的距离。神经细胞粘附分子L1CAM的基因座位于该区间内，因此是HSAS的一个候选基因。

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