EVIDENCE FOR MUTATION BY UNEQUAL SISTER CHROMATID EXCHANGE IN THE DUCHENNE MUSCULAR-DYSTROPHY GENE
- 1 June 1989
- journal article
- research article
- Vol. 44 (6) , 855-863
Abstract
We have studied three families each containing a male with Duchenne or Becker muscular dystrophy. Southern blot analysis using both genomic and cDNA probes revealed that an exon-containing segment of DNA within the gene is duplicated in the probands, their mothers, and, in two cases, their sisters. The grandpaternal origin of the duplication has been demonstrated in these families by RFLP and duplication analysis. The results suggest that unequal sister-chromatid exchange, which most likely occurred in the germ cell lineage of the proband''s grandfather, is responsible for generating these duplications and that this type of intrachromosomal rearrangment, although rarely reported in humans, is not uncommon in the muscular dystrophy gene.This publication has 32 references indexed in Scilit:
- EFFECTIVE STRATEGY FOR PRENATAL PREDICTION OF DUCHENNE AND BECKER MUSCULAR DYSTROPHYThe Lancet, 1987
- A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected maleNature, 1987
- Germline mosaicism and Duchenne muscular dystrophy mutationsNature, 1987
- Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individualsCell, 1987
- Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families.Journal of Medical Genetics, 1986
- Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segmentNature, 1985
- Does unequal crossing over contribute to the mutation rate in Duchenne muscular dystrophy?American Journal of Medical Genetics, 1982
- Processes of gene duplicationNature, 1982
- Recent developments in the molecular genetics of human hemoglobinCell, 1979
- Evolution of Repeated DNA Sequences by Unequal CrossoverScience, 1976