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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Usefulness of a CACA repeat polymorphism in genotype assignments in Duchenne/Becker muscular dystrophy.

RFLP analysis in Duchenne/Becker muscular dystrophy (D/ BMD) has been limited by the lack of informative marker loci at the 3' end of the dystrophin gene. Recently a CACA repeat polymorphism was described in the 3' untranslated end of the dystrophin gene which we have found helpful in genotype assignments of D/ BMD families when an RFLP approach is required. The CACA repeat marker has 2 common alleles (1 and 2) that are easily visualized by a nonradioactive PCR method followed by polyacrylamide gel electrophoresis. We present 2 families which demonstrate the use of this polymorphism. Since 35-50% of females are heterozygous, this locus is a useful marker in RFLP analysis of D/ BMD families.[1]

References

  1. Usefulness of a CACA repeat polymorphism in genotype assignments in Duchenne/Becker muscular dystrophy. Miller, M., Boehm, C., Cotton, M., Kazazian, H.H. Am. J. Med. Genet. (1992) [Pubmed]
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