Dubovsky J, Zabramski J M, Kurth J, Spetzler R F, Rich S S, Orr H T, Weber J L
Center for Medical Genetics, Marshfield Medical Research Foundation, WI 54449, USA.
Hum Mol Genet. 1995 Mar;4(3):453-8. doi: 10.1093/hmg/4.3.453.
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.
脑海绵状血管畸形是一种血管病变，在所有个体中的发生率高达0.4%，常伴有癫痫、偏头痛、出血及其他神经问题。通过连锁分析和一组短串联重复多态性，在一个庞大的西班牙裔家族中，将导致脑海绵状血管畸形的基因定位到了7号染色体的q11 - q22区域。在位于D7S804位点的标记PY5 - 18零重组时，获得了最大成对lod分数4.2。与PY5 - 18紧密连锁的另外四个标记也获得了超过3.0的lod分数。在性别平均图谱上，所有患病个体共享了一个长度为33 cM的7号染色体长臂广泛单倍型，表明该基因位于D7S502和D7S479位点之间。
