Literature DB >> 8004096

Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy.

F Fougerousse1, O Broux, I Richard, V Allamand, A P de Souza, N Bourg, L Brenguier, C Devaud, P Pasturaud, C Roudaut.   

Abstract

A gene responsible for an autosomal recessive form of limb girdle muscular dystrophy (LGMD2, MIM number 253600) has been localized on chromosome 15. After genotyping additional markers of this chromosome, two were found to flank the disease locus within an interval that was assessed as 7 centiMorgans. The screening of the CEPH YAC libraries with the corresponding probes allowed the isolation of YACs which were used in fluorescence in situ hybridization to define the LGMD2 cytogenetic interval as 15q15.1-15q21.1. Four different approaches were pursued for the establishment of the physical map of this area which allowed the assembly of an uninterrupted YAC contig spanning an estimated 10-12 megabases, with an average STS resolution of 140 kb or for the 25 polymorphic microsatellites on this map, of 400 kb. Twelve genes and 25 genetic markers were positioned in this contig, which is constituted of a minimum of 10 clones.

Entities:  

Mesh:

Substances:

Year:  1994        PMID: 8004096     DOI: 10.1093/hmg/3.2.285

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  12 in total

Review 1.  Imaging of single DNA molecule: applications to high-resolution genomic studies.

Authors:  J Herrick; A Bensimon
Journal:  Chromosome Res       Date:  1999       Impact factor: 5.239

2.  The genexpress IMAGE knowledge base of the human muscle transcriptome: a resource of structural, functional, and positional candidate genes for muscle physiology and pathologies.

Authors:  G Piétu; E Eveno; B Soury-Segurens; N A Fayein; R Mariage-Samson; C Matingou; E Leroy; C Dechesne; S Krieger; W Ansorge; I Reguigne-Arnould; D Cox; A Dehejia; M H Polymeropoulos; M D Devignes; C Auffray
Journal:  Genome Res       Date:  1999-12       Impact factor: 9.043

3.  Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3.

Authors:  U Lichter-Konecki; K W Broman; E B Blau; D S Konecki
Journal:  Am J Hum Genet       Date:  2000-11-22       Impact factor: 11.025

4.  Molecular cloning of mouse canp3, the gene associated with limb-girdle muscular dystrophy 2A in human.

Authors:  I Richard; J S Beckmann
Journal:  Mamm Genome       Date:  1996-05       Impact factor: 2.957

5.  Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

Authors:  M R Passos-Bueno; E S Moreira; S K Marie; R Bashir; L Vasquez; D R Love; M Vainzof; P Iughetti; J R Oliveira; E Bakker; T Strachan; K Bushby; M Zatz
Journal:  J Med Genet       Date:  1996-02       Impact factor: 6.318

6.  Recombinant expression and isolation of human L-arginine:glycine amidinotransferase and identification of its active-site cysteine residue.

Authors:  A Humm; E Fritsche; K Mann; M Göhl; R Huber
Journal:  Biochem J       Date:  1997-03-15       Impact factor: 3.857

7.  Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval.

Authors:  V Allamand; O Broux; I Richard; F Fougerousse; N Chiannilkulchai; N Bourg; L Brenguier; C Devaud; P Pasturaud; A Pereira de Souza
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

Review 8.  Investigation of muscle disease.

Authors:  F L Mastaglia; N G Laing
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-03       Impact factor: 10.154

9.  An STS map of the limb girdle muscular dystrophy type 2A region.

Authors:  I Richard; C Roudaut; F Fougerousse; N Chiannilkulchai; J S Beckmann
Journal:  Mamm Genome       Date:  1995-10       Impact factor: 2.957

Review 10.  [Limb girdle muscular dystrophies].

Authors:  J Finsterer
Journal:  Nervenarzt       Date:  2004-12       Impact factor: 1.214

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.