Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene

Delatycki, M.B., Paris, D., Gardner, R.J.M., Forshaw, K., Nicholson, G.A., Nassif, N., Williamson, R., and Forrest, S.M. (1998) Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene. Journal of Medical Genetics, 35. pp. 713-716.

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Abstract

Friedreich ataxia is usually caused by an expansion of a GAA trinucleotide repeat in intron 1 of the FRDA gene. Occasionally, a fully expanded allele has been found to arise from a premutation of 100 or less triplet repeats. We have examined the sperm DNA ofa premutation carrier. This man's leucocyte DNA showed one normal allele and one allele of approximately 100 repeats. His sperm showed an expanded allele in a tight range centering on a size of approximately 320 trinucleotide repeats. His affected son has repeat sizes of 1040 and 540. These data suggest that expansion occurs in two stages, the first during meiosis followed by a second mitotic expansion. We also show that in all informative carrier father to affected child transmissions, with the notable exception of the premutation carrier, the expansion size decreases.

Item ID: 34532
Item Type: Article (Refereed Research - C1)
Keywords: Friedreich ataxia, trinucleotide repeats, permutation, sperm
ISSN: 1468-6244
Date Deposited: 27 Aug 2014 04:38
FoR Codes: 11 MEDICAL AND HEALTH SCIENCES > 1109 Neurosciences > 110905 Peripheral Nervous System @ 40%
11 MEDICAL AND HEALTH SCIENCES > 1114 Paediatrics and Reproductive Medicine > 111404 Reproduction @ 20%
06 BIOLOGICAL SCIENCES > 0604 Genetics > 060410 Neurogenetics @ 40%
SEO Codes: 97 EXPANDING KNOWLEDGE > 970111 Expanding Knowledge in the Medical and Health Sciences @ 40%
92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920110 Inherited Diseases (incl. Gene Therapy) @ 30%
92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920111 Nervous System and Disorders @ 30%
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