遗传性出血性毛细血管扩张症的一个基因定位于9号染色体长臂3区。

A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3.

作者信息

Shovlin C L, Hughes J M, Tuddenham E G, Temperley I, Perembelon Y F, Scott J, Seidman C E, Seidman J G

机构信息

Medical Research Council Molecular Medicine Group, Hammersmith Hospital, London, UK.

出版信息

Nat Genet. 1994 Feb;6(2):205-9. doi: 10.1038/ng0294-205.

DOI:10.1038/ng0294-205

PMID:8162076

Abstract

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder that is characterized by frequent nosebleeds, mucocutaneous telangiectases and vascular malformations that cause recurrent haemorrhage and arteriovenous shunting. Linkage analyses in one kindred identified an HHT locus on the long arm of chromosome 9 (maximum multipoint lod score = 6.20 between D9S60 and D9S61). Analyses in two other unrelated HHT families demonstrated that the disease in one was not linked to the locus on chromosome 9q3. We conclude that HHT is a genetically heterogeneous disorder. Based on its map location (9q3) and expression in vascular tissues, type V collagen is a possible candidate gene for HHT.

摘要

遗传性出血性毛细血管扩张症（HHT）是一种常染色体显性血管疾病，其特征为频繁鼻出血、黏膜皮肤毛细血管扩张以及导致反复出血和动静脉分流的血管畸形。在一个家系中的连锁分析确定了9号染色体长臂上的一个HHT基因座（D9S60和D9S61之间的最大多点lod分数 = 6.20）。对另外两个无关的HHT家系的分析表明，其中一个家系的疾病与9q3染色体上的基因座不连锁。我们得出结论，HHT是一种基因异质性疾病。基于其图谱定位（9q3）以及在血管组织中的表达，V型胶原蛋白是HHT的一个可能候选基因。