动脉迂曲综合征一个基因的纯合子定位至20号染色体长臂13区。
Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13.
作者信息
Coucke P J, Wessels M W, Van Acker P, Gardella R, Barlati S, Willems P J, Colombi M, De Paepe A
机构信息
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
出版信息
J Med Genet. 2003 Oct;40(10):747-51. doi: 10.1136/jmg.40.10.747.
BACKGROUND
Arterial tortuosity syndrome (ATS) is an uncommon connective tissue disorder of unknown aetiology. The most prominent feature is tortuosity of the large arteries, but lengthening, stenosis, and aneurysm formation are also frequent.
METHODS
We performed a genomewide screen by homozygosity mapping of three consanguineous multiplex families, two from Morocco, and one from Italy, which included 11 ATS patients. The two families from Morocco may possibly have a common ancestor.
RESULTS
We mapped the ATS gene to chromosome 20q13. Recombinations within an extended haplotype of 11 microsatellite markers localised the ATS gene between markers D20S836 and D20S109, an interval of 9.5 cM.
CONCLUSIONS
Cloning and completing functional and structural analysis of the ATS gene may provide new insights into the molecular mechanisms of elastogenesis.
背景
动脉迂曲综合征（ATS）是一种病因不明的罕见结缔组织疾病。最突出的特征是大动脉迂曲，但血管延长、狭窄和动脉瘤形成也很常见。
方法
我们通过对三个近亲多成员家庭进行纯合性定位分析，进行了全基因组筛查，其中两个家庭来自摩洛哥，一个来自意大利，共纳入11例ATS患者。来自摩洛哥的两个家庭可能有共同的祖先。
结果
我们将ATS基因定位到20号染色体长臂13区。11个微卫星标记的一个延伸单倍型内的重组将ATS基因定位在标记D20S836和D20S109之间，间隔为9.5厘摩。
结论
对ATS基因进行克隆并完成功能和结构分析，可能会为弹性蛋白生成的分子机制提供新的见解。
Zotero 插件