High-Resolution Physical and Genetic Mapping of the Critical Region for Meckel Syndrome and Mulibrey Nanism on Chromosome 17q22–q23
作者： M Bärlund , A Palotie , N Idänheimo , A de la Chapelle , K Avela
DOI: 10.1101/GR.9.3.267
关键词:
摘要: Previously, we assigned the genes for two autosomal recessive disorders, Meckel syndrome (MKS; MIM 249000) and Mulibrey Nanism [MUL (muscle-liver-brain-eye Nanism); 253250] that are enriched in Finnish population, to overlapping genomic regions on chromosome 17q. Now, report construction of a bacterial clone contig over critical region both disorders. Several novel CA-repeat markers were isolated from these clones, which allowed refined mapping MKS MUL loci using haplotype linkage disequilibrium analysis. The localization locus was narrowed <1 cM between D17S1290 132-CA, within an approximately 800-kb region. into 1400-kb interval 52-CA. whole falls In common region, conserved haplotypes different patients. A trancript map constructed by assigning expressed sequence tags (ESTs) genes, derived human gene map, contig. Altogether, four total 20 ESTs precisely localized. These data provide molecular tools final identification genes.
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