A GENE RESPONSIBLE FOR CAVERNOUS MALFORMATIONS OF THE BRAIN MAPS TO CHROMOSOME 7Q
A GENE RESPONSIBLE FOR CAVERNOUS MALFORMATIONS OF THE BRAIN MAPS TO CHROMOSOME 7Q
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DOI：
10.1093/hmg/4.3.453
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发表时间：
1995-03-01
影响因子：
3.5
通讯作者：
WEBER, JL
中科院分区：
文献类型：
--
作者：
DUBOVSKY, J;ZABRAMSKI, JM;WEBER, JL
大脑海绵状畸形是一种血管病变，高达 0.4% 的个体存在这种病变，通常伴有癫痫、偏头痛、出血和其他神经系统问题。使用连锁分析和一组短串联重复多态性，将一个导致大型西班牙血统海绵状畸形的基因定位到 7 号染色体的 q11 - q22 区域。在 D7S804 基因座处与标记 PY5-18 零重组时获得了 4.2 的最大成对 lod 得分。使用与 PY5-18 密切相关的四个附加标记获得了超过 3.0 的 Lod 分数。性别平均图谱上长度为 33 cM 的宽染色体 7q 单倍型为所有受影响个体所共有，表明该基因位于位点 D7S502 和 D7S479 之间。
Cavernous malformations of the brain are vascular lesions which are present in up to 0.4% of all individuals and which are often accompanied by seizures, migraine, hemorrhage and other neurologic problems. Using linkage analysis and a set of short tandem repeat polymorphisms, a gene responsible for cavernous malformations in a large Hispanic kindred was mapped to the q11 - q22 region of chromosome 7. A maximum pairwise lod score of 4.2 was obtained at zero recombination with marker PY5-18 at locus D7S804. Lod scores in excess of 3.0 were obtained with four additional markers closely linked to PY5-18. A broad chromosome 7q haplotype of 33 cM length on the sex average map was shared by all affected individuals indicating that the gene lies between loci D7S502 and D7S479.