长QT综合征的一个基因定位于染色体4q25 - 27。
Mapping of a gene for long QT syndrome to chromosome 4q25-27.
作者信息
Schott J J, Charpentier F, Peltier S, Foley P, Drouin E, Bouhour J B, Donnelly P, Vergnaud G, Bachner L, Moisan J P
机构信息
Laboratoire de Physiopathologie et Pharmacologie Cellulaires et Moléculaires, URA CNRS 1340, CHU de Nantes, France.
出版信息
Am J Hum Genet. 1995 Nov;57(5):1114-22.
Long QT syndrome (LQTS) is a heterogeneous inherited disorder causing syncope and sudden death from ventricular arrhythmias. A first locus for this disorder was mapped to chromosome 11p15.5. However, locus heterogeneity has been demonstrated in several families, and two other loci have recently been located on chromosomes 7q35-36 and 3p21-24. We used linkage analysis to map the locus in a 65-member family in which LQTS was associated with more marked sinus bradycardia than usual, leading to sinus node dysfunction. Linkage to chromosome 11p15.5, 7q35-36, or 3p21-24 was excluded. Positive linkage was obtained for markers located on chromosome 4q25-27. A maximal LOD score of 7.05 was found for marker D4S402. The identification of a fourth locus for LQTS confirms its genetic heterogeneity. Locus 4q25-27 is associated with a peculiar phenotype within the LQTS entity.
长QT综合征（LQTS）是一种异质性遗传性疾病，可导致晕厥和室性心律失常引起的猝死。该疾病的第一个基因座被定位到染色体11p15.5。然而，在几个家族中已证实存在基因座异质性，最近在染色体7q35 - 36和3p21 - 24上又发现了另外两个基因座。我们运用连锁分析对一个65名成员的家族进行基因座定位，在这个家族中，LQTS与比平常更明显的窦性心动过缓相关，进而导致窦房结功能障碍。排除了与染色体11p15.5、7q35 - 36或3p21 - 24的连锁关系。在位于染色体4q25 - 27上的标记物处获得了阳性连锁结果。标记物D4S402的最大对数优势得分为7.05。LQTS第四个基因座的确定证实了其遗传异质性。基因座4q25 - 27与LQTS实体中的一种特殊表型相关。
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