Marchuk D A, Gallione C J, Morrison L A, Clericuzio C L, Hart B L, Kosofsky B E, Louis D N, Gusella J F, Davis L E, Prenger V L
Department of Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Genomics. 1995 Jul 20;28(2):311-4. doi: 10.1006/geno.1995.1147.
Cavernous malformations (angiomas) affecting the central nervous system and retina can be inherited in autosomal dominant pattern (OMIM 116860). These vascular lesions may remain clinically silent or lead to a number of neurological symptoms including seizure, intracranial hemorrhage, focal neurological deficit, and migraine. We have mapped a gene for this disorder in two families, one of Italian-American origin and one of Mexican-American origin, to markers on proximal 7q, with a combined maximum lod score of 3.92 (theta of zero) with marker D7S479. Haplotype analysis of these families places the locus between markers D7S502 proximally and D7S515 distally, an interval of approximately 41 cM. The location distinguishes this disorder from an autosomal dominant vascular malformation syndrome where lesions are primarily cutaneous and that maps to 9p21.
影响中枢神经系统和视网膜的海绵状血管畸形（血管瘤）可呈常染色体显性模式遗传（在线人类孟德尔遗传数据库编号116860）。这些血管病变在临床上可能无症状，或导致多种神经症状，包括癫痫、颅内出血、局灶性神经功能缺损和偏头痛。我们在两个家族中对该疾病的一个基因进行了定位，一个是意大利裔美国人家庭，另一个是墨西哥裔美国人家庭，该基因定位于7号染色体长臂近端的标记物上，与标记物D7S479的最大连锁对数合计为3.92（重组率为零）。对这些家族的单倍型分析将该基因座定位于近端标记物D7S502和远端标记物D7S515之间，间隔约41厘摩。这一位置将该疾病与一种常染色体显性血管畸形综合征区分开来，后者的病变主要在皮肤，定位于9号染色体短臂2区1带。
