The Gene of Megalencephalic Leukoencephalopathy with Subcortical Cysts is Mapped on Chromosome 22q13. 3 with 250 kb Interval

摘要

Objective: Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a recently described syndrome with autosomal recessive made of inheritance. Its possible gene was located on chromosomal 22q_(tel) with 3-cM. The purpose of this study was to narrow down the geneti-cal 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. Tlie heterogeneity of one informative family indicated possible existence of a second locus for MLC.