Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34
Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34
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DOI：
10.1038/sj.ejhg.5200713
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发表时间：
2001-10-01
影响因子：
5.2
通讯作者：
Kere, J
中科院分区：
文献类型：
--
作者：
Koillinen, H;Wong, FK;Kere, J
货车德沃德综合征（VWS）是一种显性遗传性发育障碍，其特征在于下唇、唇裂和/或腭裂的凹陷和/或窦。这是最常见的裂综合征。VWS在所有人群中显示出显著的遗传同质性，到目前为止，所有报道的家庭都与1 q32-q41有关。最近发现一个大型芬兰家系VWS与1 q32-q41无关。为了定位该家系的致病基因，进行了全基因组连锁扫描。用标记D1 S2797获得了3.18的最大lod得分，从而将疾病基因座分配到染色体区域1 p34。通过对减数分裂重组体的分析，确定了一个相似的30 cM区域的共享单倍型。结果证实了VWS综合征的异质性，他们将第二个疾病位点定位在1 p34。这一发现具有特殊的意义，因为VWS的表型与唇腭裂非综合征形式的表型非常相似。
The Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, cleft lip and/or cleft palate. It is the most common cleft syndrome. VWS has shown remarkable genetic homogeneity in all populations, and so far, all families reported have been linked to 1q32-q41. A large Finnish pedigree with VWS was recently found to be unlinked to 1q32-q41. In order to map the disease locus in this family, a genome wide linkage scan was performed. A maximum lod score of 3.18 was obtained with the marker D1S2797, thus assigning the disease locus to chromosomal region 1 p34. By analyses of meiotic recombinants an similar to 30 cM region of shared haplotypes was identified. The results confirm the heterogeneity of the VWS syndrome, and they place the second disease locus in 1p34. This finding has a special interest because the phenotype in VWS closely resembles the phenotype in non-syndromic forms of cleft lip and palate.