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

Arne Nystuen; Hanan Costeff; Orly N Elpeleg; Naomi Apter; Batsheva Bonné-Tamir; Harvey Mohrenweiser; Neena Haider; Edwin M Stone; Val C Sheffield

doi:10.1093/hmg/6.4.563

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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

Journal article

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Peer reviewed

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

Arne Nystuen, Hanan Costeff, Orly N Elpeleg, Naomi Apter, Batsheva Bonné-Tamir, Harvey Mohrenweiser, Neena Haider, Edwin M Stone and Val C Sheffield

Human molecular genetics, Vol.6(4), pp.563-569

04/1997

DOI: 10.1093/hmg/6.4.563

PMID: 9097959

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Abstract

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.

Genetic Markers

Iraq

Genetic Testing

Myotonin-Protein Kinase

Isoenzymes

Humans

Protein-Serine-Threonine Kinases - genetics

Linkage Disequilibrium - genetics

Genotype

Male

Chromosome Mapping

DNA Primers

Trinucleotide Repeats - genetics

Lod Score

Creatine Kinase - genetics

Chromosomes, Human, Pair 19 - genetics

Jews

Pedigree

Female

Glutarates - urine

Polymorphism, Genetic - genetics

Protein-Serine-Threonine Kinases - chemistry

Optic Atrophy - genetics

Details

Title: Subtitle: 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
Creators: Arne Nystuen - Department of Pediatrics, University of Iowa, Iowa City 52242, USA
Hanan Costeff
Orly N Elpeleg
Naomi Apter
Batsheva Bonné-Tamir
Harvey Mohrenweiser
Neena Haider
Edwin M Stone
Val C Sheffield
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.6(4), pp.563-569
DOI: 10.1093/hmg/6.4.563
PMID: 9097959
NLM abbreviation: Hum Mol Genet
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: England
Grant note: HG00457 / NHGRI NIH HHS P50HG00835 / NHGRI NIH HHS
Language: English
Date published: 04/1997
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983980027602771

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