Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements |
| |
| Authors: | Upadhyaya, M. Jardine, P. Maynard, J. Farnham, J. Sarfarazi, M. Wijmenga, C. Hewitt, J.E. Frants, R. Harper, P.S. Lunt, P.W. |
| |
| Affiliation: | Institute of Medical Genetics, University of Wales College of Medicine Heath Park, Cardiff 1Institute of Child Health, Bristol Children's Hospital Bristol BS2 8BJ, UK 2Department of Pediatrics, University of Connecticut Health Center Farmington, CT, USA 3Department of Human Genetics and Department of Neurology, Leiden University 2333 AL, Leiden, The Netherlands 4Department of Cell & Structural Biology, Manchester University Medical School Oxford Road, Manchester, M13 9PT, UK |
| |
| Abstract: | Facioscapulohumeral muscular dystrophy is an important autosomaldominant neuromuscular disorder that has been localised to 4q35.We have analysed our extensive panel of 45 families with a newDNA marker p13E-11. The findings, based on multiply informativeindividual meioses and multipoint mapping, suggest that probep13E-11is the closest marker for the disorder and it is likelyto be located proximal to the disease locus as are all the otherpresent markers. In nine of the ten new mutations studied, anew smaller EcoRl fragment which was not present in either ofthe parents was detected, indicating that a de novo DNA rearrangmentis indeed associated with the development of the disease state.However, in view of the difficulty in defining the size of over30kb alleles and the recombinant events observed with p13E-11,we suggest that it should be used in combination with anotherVNTR marker until a close distal flanking marker for this conditionis identified or the gene itself is isolated. |
| |
| Keywords: | |
| 本文献已被 Oxford 等数据库收录！ |
|
