X连锁型高IgM综合征（HIGM1）的定位

Mapping of the X linked form of hyper IgM syndrome (HIGM1).

作者信息

Padayachee M, Levinsky R J, Kinnon C, Finn A, McKeown C, Feighery C, Notarangelo L D, Hendriks R W, Read A P, Malcolm S

机构信息

Molecular Genetics Unit, Institute of Child Health, London.

出版信息

J Med Genet. 1993 Mar;30(3):202-5. doi: 10.1136/jmg.30.3.202.

DOI:10.1136/jmg.30.3.202

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016299/

Abstract

X linked immunodeficiency with hyperimmunoglobulinaemia M (HIGM1), which is characterised by agammaglobulinaemia together with excess IgM production reflecting an impairment of the immunoglobulin heavy chain class switch of B lymphocytes, has been mapped to Xq26. We report multipoint linkage data in six families with HIGM1 which show that the most likely position for the gene is close to HPRT with a maximum lod score of 4.89. The finding of recombinations between HIGM1 and both HPRT and DXS42 implies that HIGM1 is not allelic to X linked lymphoproliferative disease. These data will be useful in genetic counselling in families and will also be useful in testing candidate genes.

摘要

X连锁高免疫球蛋白M血症相关免疫缺陷（HIGM1），其特征为无丙种球蛋白血症以及反映B淋巴细胞免疫球蛋白重链类别转换受损的过量IgM产生，已被定位到Xq26。我们报告了6个HIGM1家系的多点连锁数据，这些数据表明该基因最可能的位置靠近次黄嘌呤磷酸核糖基转移酶（HPRT），最大对数优势得分为4.89。在HIGM1与HPRT和DXS42之间均发现了重组，这意味着HIGM1与X连锁淋巴细胞增生性疾病并非等位基因。这些数据将有助于对家系进行遗传咨询，也将有助于检测候选基因。

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3

A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.CD40配体的单链构象多态性研究。X连锁高IgM综合征的高效突变分析与携带者检测。

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