原发性纤毛运动障碍的一个基因座定位于19号染色体长臂。
A locus for primary ciliary dyskinesia maps to chromosome 19q.
作者信息
Meeks M, Walne A, Spiden S, Simpson H, Mussaffi-Georgy H, Hamam H D, Fehaid E L, Cheehab M, Al-Dabbagh M, Polak-Charcon S, Blau H, O'Rawe A, Mitchison H M, Gardiner R M, Chung E
机构信息
Department of Paediatrics, Royal Free and University College Medical School, University College London, London WC1E 6JJ, UK.
出版信息
J Med Genet. 2000 Apr;37(4):241-4. doi: 10.1136/jmg.37.4.241.
Primary ciliary dyskinesia is an autosomal recessive condition characterised by chronic sinusitis, bronchiectasis, and subfertility. Situs inversus occurs in 50% of cases (Kartagener syndrome). It has an estimated incidence of 1 in 20 000 live births. The clinical phenotype is caused by defective ciliary function associated with a range of ultrastructural abnormalities including absent dynein arms, absent radial spokes, and disturbed ciliary orientation. The molecular genetic basis is unknown. A genome scan was performed in five Arabic families. Using GENEHUNTER, a maximal multipoint lod score (HLOD) of 4.4 was obtained on chromosome 19q13.3-qter at alpha (proportion of linked families) = 0.7. A 15 cM critical region is defined by recombinations at D19S572 and D19S218. These data provide significant evidence for a PCD locus on chromosome 19q and confirm locus heterogeneity.
原发性纤毛运动障碍是一种常染色体隐性疾病，其特征为慢性鼻窦炎、支气管扩张和生育力低下。50%的病例会出现内脏反位（卡塔格内综合征）。据估计，其在活产婴儿中的发病率为1/20000。临床表型是由一系列超微结构异常相关的纤毛功能缺陷引起的，这些异常包括动力蛋白臂缺失、辐条缺失和纤毛方向紊乱。分子遗传基础尚不清楚。对五个阿拉伯家庭进行了基因组扫描。使用GENEHUNTER软件，在19号染色体q13.3-qter区域，α（连锁家族比例）=0.7时，获得了最大多点对数优势评分（HLOD）为4.4。一个15厘摩的关键区域由D19S572和D19S218处的重组确定。这些数据为19号染色体q上的原发性纤毛运动障碍基因座提供了重要证据，并证实了基因座异质性。
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