Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait.

Annales de genetique Pub Date : 1999-01-01

C Houdayer, V Soupre, M Rosenberg-Bourgin, H Martinez, M Tredano, D Feldmann, J Feingold, P Aymard, A Munnich, Y Le Bouc, M P Vazquez, M Bahuau

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Abstract

van der Woude syndrome (vWS, MIM 119300) is a rare autosomal dominant clefting condition with cardinal features of mucous cysts (lower-lip pits) and clefts to the lip and/or palate. The vWS gene has been assigned to a locus in 1q32-q41 by linkage analysis and physical mapping. We have investigated 5 novel vWS families through probands attended for cleft lip and/or palate repair at the Department of Maxillofacial Surgery of Hôpital Trousseau, Paris, in order to tentatively refine the genetic map of the vWS region in 1q32-q41 and possibly identify unlinked pedigrees. Linkage analysis was carried out to 6 microsatellite markers (D1S249, D1S425, D1S491, D1S205, D1S414, D1S425), yielding a maximum cumulative LOD score of Z = 3.27 at theta = 0.00 for D1S245. The innermost four markers were found to be tightly linked to one another, with no evidence for recombination. Our results support linkage of vWS within a region of tightly linked markers and do not favour locus heterogeneity of the disease trait.

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5个新的范德伍德综合征类群与1q32-q41标记的连锁分析进一步支持了该疾病性状的基因座同质性。

van der Woude综合征(vWS, MIM 119300)是一种罕见的常染色体显性唇裂疾病，主要特征为粘液囊肿(下唇凹陷)和唇裂。通过连锁分析和物理定位，将vWS基因定位在1q32-q41位点上。我们通过在巴黎Hôpital Trousseau颌面外科接受唇裂和/或腭裂修复的先证调查了5个新的vWS家族，以初步完善1q32-q41的vWS区域遗传图谱，并可能确定不相关的家系。对6个微卫星标记(D1S249、D1S425、D1S491、D1S205、D1S414、D1S425)进行连锁分析，D1S245的最大累积LOD评分为Z = 3.27, theta = 0.00。最里面的四个标记被发现彼此紧密相连，没有重组的证据。我们的研究结果支持vWS在一个紧密连锁标记区域内的连锁，而不支持疾病性状的基因座异质性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Annales de genetique

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