常染色体显性遗传性颅内动脉瘤的一个新基因座ANIB4定位于5号染色体p15.2 - 14.3区域。
A new locus for autosomal dominant intracranial aneurysm, ANIB4, maps to chromosome 5p15.2-14.3.
作者信息
Verlaan D J, Dubé M-P, St-Onge J, Noreau A, Roussel J, Satgé N, Wallace M C, Rouleau G A
出版信息
J Med Genet. 2006 Jun;43(6):e31. doi: 10.1136/jmg.2005.033209.
BACKGROUND
Intracranial aneurysms (IA) are dilatations of intracranial arteries that occur most commonly at arterial bifurcations. Unruptured IA are present in approximately 1-2% of the population aged over 30 years of age. Aneurysms are only rarely symptomatic unless they rupture, which typically results in a subarachnoid haemorrhage associated with high morbidity and mortality.
METHODS
A large French Canadian (FC) family (Aneu60) was identified which contained 12 affected individuals with intracranial aneurysms. Nine of the affected patients and three unaffected individuals were sent for an 8 cM genome-wide scan. Multipoint and two-point methods were used to analyse the scan data by using a dominant parametric model.
RESULTS
We identified an IA susceptibility locus (ANIB4) located on chromosome 5p15.2-14.3. The locus was found by genome-wide linkage analysis and follow up analyses provided a maximum multipoint LOD score of 3.57 over the region. An identical haplotype segment of 7.2 Mb was found in a second FC pedigree and contributes to the refinement of the candidate gene interval.
CONCLUSIONS
Our results indicate that there is a major gene locus on chromosome 5p.
背景
颅内动脉瘤（IA）是颅内动脉的扩张，最常见于动脉分叉处。未破裂的IA在30岁以上人群中约占1%-2%。动脉瘤很少有症状，除非破裂，破裂通常会导致蛛网膜下腔出血，其发病率和死亡率都很高。
方法
确定了一个法裔加拿大（FC）大家族（Aneu60），其中有12名患有颅内动脉瘤的患者。9名患病患者和3名未患病个体接受了8厘摩（cM）的全基因组扫描。采用多点和两点法，使用显性参数模型分析扫描数据。
结果
我们在5号染色体p15.2-14.3区域确定了一个IA易感基因座（ANIB4）。该基因座通过全基因组连锁分析发现，后续分析在该区域提供了最高3.57的多点对数优势（LOD）分数。在第二个FC家系中发现了一个相同的7.2兆碱基（Mb）单倍型片段，有助于缩小候选基因区间。
结论
我们的结果表明，5号染色体p上存在一个主要基因座。
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