Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis.

摘要: Mulibrey nanism (MUL) is an autosomal recessive disorder with unknown basic metabolic defect. It characterized by growth failure of prenatal onset, characteristic dysmorphic features, constrictive pericardium, hepatomegaly as a consequence yellowish dots in the ocular fundi, and J-shaped sella turcica. Hypoplasia various endocrine glands, causing hormone deficiencies, common. Here we report assignment MUL gene, linkage analysis Finnish families, to 7-cM region flanked D17S1799 D17S948 on chromosome 17q. Multipoint gave maximum LOD score 5.01 at loci D17S1606-D17S1853 D17S1604. The estimate critical was further narrowed within approximately 250 kb marker D17S1853 disequilibrium analysis. Positional candidate genes that belong homeobox B gene clusters were excluded. These data confirm inheritance allow highly focused attempts clone gene.