Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene.

Literature DB >> 2879931

Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene.

J R Yates, N A Affara, D M Jamieson, M A Ferguson-Smith, I Hausmanowa-Petrusewicz, J Zaremba, J Borkowska, A W Johnston, K Kelly.

Abstract

Two families with Emery-Dreifuss muscular dystrophy (EMD) have been studied with DNA markers mapping to Xq27.3----qter. No recombination was observed in 11 phase known meioses informative for the factor VIII gene (F8C) and eight phase known meioses informative for DXS15 (DX13), giving maximum lod scores of 3.50 and 2.50 respectively at a recombination fraction of zero. DXS52 (St14) showed one recombinant in 12 phase known meioses giving a maximum lod score of 2.62 at a recombination fraction of 0.07. These results map EMD to the distal end of the long arm of the X chromosome and are an important step in the development of tests for carrier detection and prenatal diagnosis.

Entities: Disease Gene

Mesh：

Substances：
Factor VIII

Year: 1986 PMID： 2879931 PMCID： PMC1049841 DOI： 10.1136/jmg.23.6.587

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

14 in total

1. Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome.

Authors: N S Thomas; H Williams; L J Elsas; L C Hopkins; M Sarfarazi; P S Harper
Journal: J Med Genet Date: 1986-12 Impact factor: 6.318

2. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors: J Ott
Journal: Am J Hum Genet Date: 1974-09 Impact factor: 11.025

Review 9. Emery-Dreifuss syndrome.

Authors: A E Emery
Journal: J Med Genet Date: 1989-10 Impact factor: 6.318

10. Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.

Authors: P A Bolhuis; G W Hensels; T J Hulsebos; F Baas; P G Barth
Journal: Am J Hum Genet Date: 1991-03 Impact factor: 11.025

Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene.

1. Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome.

2. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

3. Report of the Committee on the Genetic Constitution of the X and Y Chromosomes.

4. Report of the Committee on Methods of Linkage Analysis and Reporting.

5. X-linked scapuloperoneal syndrome.

6. Genetic mapping: X chromosome.

7. The genetic linkage map of the human X chromosome.

8. Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene.

9. Unusual type of benign x-linked muscular dystrophy.

10. Emery-dreifuss humeroperoneal muscular dystrophy: an x-linked myopathy with unusual contractures and bradycardia.

Review 1. Diagnosis of genetic disease using recombinant DNA. Supplement.

2. Color vision defects in adrenomyeloneuropathy.

3. Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.

4. Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees.

5. Gene deletions in X-linked muscular dystrophy.

Review 6. Molecular analysis of muscular dystrophy.

7. Frequent alterations of visual pigment genes in adrenoleukodystrophy.

8. Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq.

Review 9. Emery-Dreifuss syndrome.

10. Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.