Assignment of a gene for hereditary dentatorubral-pallidoluysian atrophy (DRPLA) to 12p13.1-p12.3
- Ehime Univ. School of Medicine (Japan); and others
Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder characterized by ataxia, epilepsy, myoclonus, dementia and involuntary movements. A number of families have been reported, particularly in Japan. Clinical symptoms vary greatly from case to case even in a single pedigree and genetic anticipation is clearly observed. Our previous linkage study between DRPLA and DNA markers on 12p showed the gene for DRPLA was tighly linked to CD4 on 12p13.3-p12 and loosely linked to F8vWF on 12p13. Recently a candidate gene for DRPLA has been located at the CTG-B37 locus and clinical severity is dependent on the CAG repeat number at the CTG-B37 locus. To define more precise localization of the gene for DRPLA, we have studied CTG-B37 genotypes in two patients with partial deletion of the short arm of chromosome 12. The patients with del(12)(p13.3-p13.1) and with del(12)(p12.2-11.2) had two distinct alleles of CTG-B37, CD4 and F8vWF. Therefore, the gene for DRPLA, CTG-B37 locus and CD4 are assigned to p13.1-p12.3 of chromosome 12 and F8vWF is assigned to 12p13.3.
- OSTI ID:
- 134046
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0782
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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