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目的 :巨颅伴皮层下海绵样囊肿性脑白质病 (MLC)是近来被证实的一种新的常染色体隐性遗传病 ,该病的可能病变基因被确定在染色体 2 2qtel上的 3 cM区域内 ,通过研究将病变基因的可能范围进一步缩小。方法 :收集 3 3个家庭中的 3 9例MLC病人 ,对其中能提供丰富遗传信息的 1 2例家庭成员 ,运用 7个微卫星标识和 4个单核苷酸多态性标识进行连锁分析和单倍体型分析。结果 :在重组值为 0 0 2下微卫星标识 3 55c1 8的最大两点LOD值是6 65;采用单倍体型分析进一步将位于 2 2qtel上的MLC病变基因的关键位置缩小在 2 50kb内。结论 :MLC病变基因位于 2 2qtel上 2 50kb内 ,有 4个候选基因被考虑。另外 ,由于其中一个家庭成员存在遗传异质性 ,故考虑MLC可能存在第二个病变基因位点。
PURPOSE: Giant skull with subcortical spongiform encephalopathy (MLC) is a newly identified autosomal recessive genetic disease. The possible lesion gene of this disease is identified in 3 cM region on chromosome 2 2qtel Within the study, the possible extent of the lesion gene will be further reduced. METHODS: Forty-nine MLC patients from 33 families were enrolled in this study. Forty-two family members, who were rich in genetic information, were enrolled in the study. Seven microsatellite markers and four SNPs were used for linkage analysis and Haplotype analysis. Results: The maximum two-point LOD value of microsatellite marker 3 55c1 8 at recombination value 0 0 2 was 6 65. Using haplotype analysis further reduced the key position of MLC pathological gene located on 2 2 qtel within 250kb. CONCLUSIONS: MLC lesions are located within 250kb of 22qtel and four candidate genes are considered. In addition, due to the genetic heterogeneity of one of the family members, it is considered that there may be a second lesion locus in MLC.