Skip to main content
Journal cover image

Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31.

Publication ,  Journal Article
Bartoloni, L; Horrigan, SK; Viles, KD; Gilchrist, JM; Stajich, JM; Vance, JM; Yamaoka, LH; Pericak-Vance, MA; Westbrook, CA; Speer, MC
Published in: Genomics
December 1, 1998

Limb-girdle muscular dystrophy type 1A (LGMD1A) is an autosomal dominant disease characterized by progressive weakness of the hip and shoulder girdle. The gene for LGMD1A had been localized to a 7-cM interval at 5q31 in a single large family (Family 39). To refine the localization of LGMD1A further and to aid in its identification, a high-resolution physical map of the locus was used to identify and provisionally localize 25 polymorphic markers. A subset of these markers was then ordered genetically, using a CEPH meiotic breakpoint panel, resulting in an integrated physical-genetic map of the locus. Relevant markers were genotyped on the members of Family 39 who contained informative recombination events, resulting in a further narrowing of LGMD1A to an interval bounded by D5S479 and D5S594, estimated to be 2 Mb in size. Integration of the genetic and physical map permits the identification of several transcription units from within the narrowed LGMD1A interval, including one that is muscle specific, representing candidate genes for this familial dystrophy.

Duke Scholars

Published In

Genomics

DOI

ISSN

0888-7543

Publication Date

December 1, 1998

Volume

54

Issue

2

Start / End Page

250 / 255

Location

United States

Related Subject Headings

  • Physical Chromosome Mapping
  • Pedigree
  • Muscular Dystrophies
  • Meiosis
  • Male
  • Humans
  • Haplotypes
  • Genotype
  • Genetics & Heredity
  • Genetic Markers
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Bartoloni, L., Horrigan, S. K., Viles, K. D., Gilchrist, J. M., Stajich, J. M., Vance, J. M., … Speer, M. C. (1998). Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31. Genomics, 54(2), 250–255. https://doi.org/10.1006/geno.1998.5579
Bartoloni, L., S. K. Horrigan, K. D. Viles, J. M. Gilchrist, J. M. Stajich, J. M. Vance, L. H. Yamaoka, M. A. Pericak-Vance, C. A. Westbrook, and M. C. Speer. “Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31.Genomics 54, no. 2 (December 1, 1998): 250–55. https://doi.org/10.1006/geno.1998.5579.
Bartoloni L, Horrigan SK, Viles KD, Gilchrist JM, Stajich JM, Vance JM, et al. Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31. Genomics. 1998 Dec 1;54(2):250–5.
Bartoloni, L., et al. “Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31.Genomics, vol. 54, no. 2, Dec. 1998, pp. 250–55. Pubmed, doi:10.1006/geno.1998.5579.
Bartoloni L, Horrigan SK, Viles KD, Gilchrist JM, Stajich JM, Vance JM, Yamaoka LH, Pericak-Vance MA, Westbrook CA, Speer MC. Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31. Genomics. 1998 Dec 1;54(2):250–255.
Journal cover image

Published In

Genomics

DOI

ISSN

0888-7543

Publication Date

December 1, 1998

Volume

54

Issue

2

Start / End Page

250 / 255

Location

United States

Related Subject Headings

  • Physical Chromosome Mapping
  • Pedigree
  • Muscular Dystrophies
  • Meiosis
  • Male
  • Humans
  • Haplotypes
  • Genotype
  • Genetics & Heredity
  • Genetic Markers