Identification of variable length polyadenosine tract at the dystrophin locus

S Tuffery; P Moine; J Demaille; M Claustres

doi:10.1007/BF00223878

Identification of variable length polyadenosine tract at the dystrophin locus

Hum Genet. 1995 May;95(5):590-2. doi: 10.1007/BF00223878.

Authors

S Tuffery¹, P Moine, J Demaille, M Claustres

Affiliation

¹ Laboratoire de Biochimie Génétique, INSERM U249/CNRS UPR 9008, Institut de Biologie, Montpellier, France.

PMID: 7759086
DOI: 10.1007/BF00223878

Abstract

We report the characterization of a length polymorphism in the human dystrophin gene, consisting of single-base pair increments in a polyadenosine tract located near the 3' end of exon 68. Using Single Strand Conformation Analysis (SSCA), three length alleles could be identified (10,182 + 13A9/10/11). This class of 1-bp length variant is rare among known intronic gene sequences, and has been described only once in the dystrophin gene. Furthermore, the high polymorphic content (0.56) of this novel marker and its distal localization in the 3' end of the coding sequence make it suitable for diagnostic purposes.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alleles
DNA / analysis
Dystrophin / genetics*
Female
Gene Frequency
Humans
Male
Minisatellite Repeats / genetics*
Muscular Dystrophies / genetics*
Poly A / genetics*
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
X Chromosome / genetics

Substances

Dystrophin
Poly A
DNA