Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms.

TitleCarrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms.
Publication TypeJournal Article
Year of Publication1991
AuthorsClemens, PR, Fenwick, RG, Chamberlain, JS, Gibbs, RA, de Andrade, M, Chakraborty, R, Caskey, CT
JournalAm J Hum Genet
Volume49
Issue5
Pagination951-60
Date Published1991 Nov
ISSN0002-9297
KeywordsAlleles, Base Sequence, Cells, Cultured, Dystrophin, Female, Gene Frequency, Genetic Carrier Screening, Genetic Markers, Humans, Male, Molecular Sequence Data, Muscular Dystrophies, Pedigree, Polydeoxyribonucleotides, Polymerase Chain Reaction, Polymorphism, Genetic, Pregnancy, Prenatal Diagnosis, Repetitive Sequences, Nucleic Acid
Abstract

To improve carrier detection and prenatal diagnosis for Duchenne and Becker muscular dystrophy families, we determined allele frequencies and measures of variation for four (dC-dA)n.(dG-dT)n loci identified within a deletion-prone region of the human dystrophin gene. The loci are highly polymorphic, with predicted heterozygosities of 71.6%-93.3%. Direct DNA sequence analysis of the (dC-dA)n.(dG-dT)n locus in intron 49 revealed an additional length polymorphism which varies by single-basepair increments, is adjacent to the dinucleotide repeat block, and enhances the polymorphic content of this marker. The four (dC-dA)n.(dG-dT)n loci are each easily amplified by PCR in two diplex reactions. The variability of allele lengths at these loci makes them ideal for carrier detection and prenatal diagnosis, often providing diagnostic information when RFLP analysis is uninformative. These markers have aided in identification of deletion mutations, exclusion of maternal cell contamination of chorionic villus samples, confirmation of paternity, and mapping of gene recombinations. The allele identification of these loci can be performed either with a radiolabel or with an automated, nonradioactive, fluorescent gel detection system.

Alternate JournalAm. J. Hum. Genet.
PubMed ID1928100
PubMed Central IDPMC1683265