Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter)

Article Abstract:

A linkage between dehydrated hereditary stomatocytosis (DHS) and microsatellite markers on chromosome 16's long arm (16q23-a24) has been discovered. A large three-generation Irish family of 23 members, 14 with DHS and 9 healthy, was studied along with two other small families. DNA samples were used to identify the DHS locus using linkage analysis. The region identified is large, with no recombination events to indicate its telomeric limit and no candidate genes that map to the region.

Erythrocyte disorders

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The molecular basis of malonyl-CoA decarboxylase deficiency

Article Abstract:

Malonyl-CoA decarboxylase (MCD) deficiency and its molecular basis are discussed. A 2.1-kb human cDNA with a 1362-bp (454-amino acid) open reading frame that shows 70.3% amino acid identity to goose MCD has been characterized, and data indicate the cDNA encodes human MCD, which is an important fatty acid metabolism regulator.

United Kingdom, Australia, Statistical Data Included, Usage, Chromosome mapping, Antisense DNA, Epilepsy in children, Pediatric epilepsy

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