MAPPING A GENE CAUSING CEREBRAL CAVERNOUS MALFORMATION TO 7Q11.2-Q21

被引：133

作者：

GUNEL, M

AWAD, IA

ANSON, J

LIFTON, RP

机构：

[1] YALE UNIV,SCH MED,HOWARD HUGHES MED INST,BOYER CTR MOLEC MED,NEW HAVEN,CT 06510

[2] YALE UNIV,SCH MED,NEUROSURG SECT,NEW HAVEN,CT 06510

[3] YALE UNIV,SCH MED,DEPT CELL BIOL,NEW HAVEN,CT 06510

[4] YALE UNIV,SCH MED,DEPT MED,NEW HAVEN,CT 06510

[5] YALE UNIV,SCH MED,DEPT GENET,NEW HAVEN,CT 06510

[6] UNIV NEW MEXICO HOSP,DIV NEUROSURG,ALBUQUERQUE,NM 87131

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1995年 / 92卷 / 14期

关键词：

GENETICS; LINKAGE ANALYSIS; VASCULAR MALFORMATION; BRAIN;

D O I：

10.1073/pnas.92.14.6620

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Cerebral cavernous malformation is a common disease of the brain vasculature of unknown cause characterized by dilated thin-walled sinusoidal vessels (caverns); these lesions cause varying clinical presentations which include headache, seizure, and hemorrhagic stroke. This disorder is frequently familial, with autosomal dominant inheritance. Using a general linkage approach in two extended cavernous malformation kindreds, we have identified linkage of this trait to chromosome 7q11.2-q21. Multipoint linkage analysis yields a peak logarithm of odds (lod) score of 6.88 with zero recombination with locus D7S669 and localizes the gene to a 7-cM region in the interval between loci ELN and D7S802.

引用

页码：6620 / 6624

页数：5

共 33 条

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