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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Malaspina, P. Spadaro, M. Jodice, C. Giunti, P. Morocutti, C. Persichetti, F. Terrenato, L. Frontali, M. Novelletto, A. Harding, A. E. |
| Description | Country affiliation: Italy Author Affiliation: Jodice C ( Dipartimento di Biologia, Università Tor Vergata, Rome, Italy.) |
| Abstract | Trinucleotide repeat expansion has been found in 64 subjects from 19 families: 57 patients with SCA1 and 7 subjects predicted, by haplotype analysis, to carry the mutation. Comparison with a large set of normal chromosomes shows two distinct distributions, with a much wider variation among expanded chromosomes. The sex of transmitting parent plays a major role in the size distribution of expanded alleles, those with > 54 repeats being transmitted by affected fathers exclusively. Our data suggest that alleles with > 54 repeats have a reduced chance of survival; these appear to be replaced in each generation by further expansion of alleles in the low- to medium-expanded repeat range, preferentially in male transmissions. Detailed clinical follow-up of a subset of our patients demonstrates significant relationships between increasing repeat number on expanded chromosomes and earlier age at onset, faster progression of the disease, and earlier age at death. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 6 |
| Volume Number | 54 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 1994-06-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Polymorphism, Genetic Repetitive Sequences, Nucleic Acid Spinocerebellar Degenerations Genetics Molecular Sequence Data Oligodeoxyribonucleotides Phenotype Sex Factors Research Support, Non-u.s. Gov't Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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