伴皮质下囊肿的巨脑性白质脑病（megalencephalic leukoencephalopathy with subcortical cysts．MLC）是一种常染色体隐性遗传疾病。1995年荷兰儿科医生van der Knaap等最先报道此病，故又称为van der Knaap病，2000年Tonpcu等将此病...伴皮质下囊肿的巨脑性白质脑病（megalencephalic leukoencephalopathy with subcortical cysts．MLC）是一种常染色体隐性遗传疾病。1995年荷兰儿科医生van der Knaap等最先报道此病，故又称为van der Knaap病，2000年Tonpcu等将此病的相关基因定位于22q13．33，展开更多
Objective: Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a recently described syndrome with autosomal recessive mode of inheritance. Its possible gene was located on chromosomal 22q ...Objective: Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a recently described syndrome with autosomal recessive mode of inheritance. Its possible gene was located on chromosomal 22q tel with 3-cM. The purpose of this study was to narrow down the genetical distance on chromosomal 22q tel with MLC. Methods: Thirty-nine MLC patients in 33 families were collected,and the linkage analysis and haplotype analysis of twelve informative families were done, using seven microsatellite markers and four SNP markers. Results: The maximum tow-point LOD score for marker 355c18 was 6.65 at recombination fraction 0.02. The haplotype analysis narrowed down the critical region of MLC to 250 kb on chromosomal 22q tel. Conclusion: One of the causing genes of MLC was located on chromosomal 22q tel with 250 kb. Four candidate genes were considered. The heterogeneity of one informative family indicated possible existence of a second locus for MLC.展开更多
文摘伴皮质下囊肿的巨脑性白质脑病（megalencephalic leukoencephalopathy with subcortical cysts．MLC）是一种常染色体隐性遗传疾病。1995年荷兰儿科医生van der Knaap等最先报道此病，故又称为van der Knaap病，2000年Tonpcu等将此病的相关基因定位于22q13．33，
文摘Objective: Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a recently described syndrome with autosomal recessive mode of inheritance. Its possible gene was located on chromosomal 22q tel with 3-cM. The purpose of this study was to narrow down the genetical distance on chromosomal 22q tel with MLC. Methods: Thirty-nine MLC patients in 33 families were collected,and the linkage analysis and haplotype analysis of twelve informative families were done, using seven microsatellite markers and four SNP markers. Results: The maximum tow-point LOD score for marker 355c18 was 6.65 at recombination fraction 0.02. The haplotype analysis narrowed down the critical region of MLC to 250 kb on chromosomal 22q tel. Conclusion: One of the causing genes of MLC was located on chromosomal 22q tel with 250 kb. Four candidate genes were considered. The heterogeneity of one informative family indicated possible existence of a second locus for MLC.
