Human Molecular Genetics, Vol 6, 563-569, Copyright © 1997 by Oxford University Press
A Nystuen, H Costeff, ON Elpeleg, N Apter, B Bonne-Tamir, H Mohrenweiser, N Haider, EM Stone and VC Sheffield
Iraqi-Jewish optic atrophy plus is an autosomal recessive condition
characterized by infantile optic atrophy, an early onset movement disorder,
and 3-methylglutaconic aciduria. Other features include spastic paraplegia,
mild ataxia, mild cognitive deficiency and dysarthria. This disorder was
identified in inbred Iraqi-Jewish kindreds in which relationships between
most of the affected individuals were unknown. In this study we identify
linkage to chromosome 19q13.2-q13.3 by using a DNA pooling strategy to
perform a genome wide screen followed by a high density search for shared
segments among affected individuals in candidate regions identified in the
initial genome wide screen. A significantly high positive lod score of 6.14
at zero recombination was obtained for the CTG repeat in the 3'
untranslated region of the myotonic dystrophy protein kinase gene. The
existence of multiple recombinant individuals indicates the disease
interval can be further narrowed with additional markers. Linkage
disequilibrium was seen in six polymorphic markers across a 1 Mb interval.
This region is well characterized and contains several candidate genes.
ARTICLES
Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene
Department of Pediatrics, University of Iowa, Iowa City 52242, USA.
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