Article
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms.
American journal of human genetics - 1 Nov 1991
Clemens P R, Fenwick R G, Chamberlain J S, Gibbs R A, de Andrade M, Chakraborty R, Caskey C T
Abstract excerpt
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...
Topics
- Alleles
- Base Sequence
- Cells, Cultured
- Dystrophin
- Female
- Gene Frequency
- Genetic Carrier Screening
- Genetic Markers
- Humans
- Male
- Molecular Sequence Data