ASSIGNMENT OF A LOCUS FOR DOMINANTLY INHERITED VENOUS MALFORMATIONS TO CHROMOSOME 9P
ASSIGNMENT OF A LOCUS FOR DOMINANTLY INHERITED VENOUS MALFORMATIONS TO CHROMOSOME 9P
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DOI：
10.1093/hmg/3.9.1583
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发表时间：
1994-09-01
影响因子：
3.5
通讯作者：
WARMAN, ML
中科院分区：
文献类型：
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作者：
BOON, LM;MULLIKEN, JB;WARMAN, ML
静脉畸形是最常见的血管畸形类型。根据大小和位置的不同，这些慢血流异常可能会导致疼痛、解剖扭曲或威胁生命。大多数静脉畸形是零星发生的，呈孤立性病变。它们也出现在几种综合征中，其中一些表现为孟德尔遗传。我们已经绘制了一个常染色体显性遗传病的基因座，该疾病在一个三代家庭中表现为多发性皮肤和粘膜静脉畸形。该基因座位于9p染色体上24 cM的间隔内，由标记D9S157和D9S163定义。α和β干扰素基因簇以及可能的肿瘤抑制基因MTS1和MTS2也在该区域。对导致这种疾病的基因的表征应该有助于深入了解静脉畸形的确切致病机制。
Venous malformation is the most common type of vascular anomaly. Depending upon size and location, these slow-flow anomalies may cause pain, anatomic distortion, or threaten life. Most venous malformations occur sporadically and present as solitary lesions. They also occur in several syndromes, some of which demonstrate Mendelian inheritance. We have mapped the locus for an autosomal dominant disorder in a three generation family that manifests as multiple cutaneous and mucosal venous malformations. This locus lies within a 24 cM interval on chromosome 9p, defined by the markers D9S157 and D9S163. The alpha and beta interferon gene cluster and the putative tumor suppressor genes MTS1 and MTS2 are also in this region. Characterization of the gene responsible for this disorder should yield insights into the precise pathogenic mechanisms for venous malformations.