The Gene of Megalencephalic Leukoencephalopathy with Subcortical Cysts is Mapped on Chromosome 2 2q 13.3 with 2 5 0 kb Interval
Abstract：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 22qtel with 3-cM. The purpose of this study was to narrow down the geneti-cal distance on chromosomal 22qtel 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 22qtel. Conclusion: One of the causing genes of MLC was located on chromosomal 22qtel with 250 kb. Four candidate genes were considered.The heter ogeneity of one informative family indicated possible existence of a second locus for MLC.
Keywords：vacuolating megalencephalic leukoencephalopathy with subcortical cystsautosomal recessive mode of inheritancechromosome 22linkage analysisposition cloningmicrosatellite markersingle-nucleotide polymorphisms
Publication Date：2003-07-02
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：10( 173-182 )