Meiotic stability and genotype – phenotype correlation of the trinucleotide repeat in X–linked spinal and bulbar muscular atrophy
| Autor: | Spiegel R, C. L. Warner, Kenneth H. Fischbeck, A. E Harding, D. B. Roling, Yee Wc, La Spada Ar, Irena Hausmanowa-Petrusewicz |
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| Rok vydání: | 1992 |
| Předmět: |
Male
X Chromosome Genotype Genetic Linkage Offspring Biology Muscular Atrophy Spinal Exon Genetic linkage Genetics medicine Humans Allele X chromosome Repetitive Sequences Nucleic Acid Base Sequence DNA medicine.disease Pedigree Meiosis Spinal and bulbar muscular atrophy Phenotype Receptors Androgen Female Trinucleotide repeat expansion |
| Zdroj: | Nature Genetics. 2:301-304 |
| ISSN: | 1546-1718 1061-4036 |
| Popis: | Expansion of the trinucleotide repeat (CAG)n in the first exon of the androgen receptor gene is associated with a rare motor neuron disorder, X-linked spinal and bulbar muscular atrophy. We have found that expanded (CAG)n alleles undergo alteration in length when transmitted from parent to offspring. Of 45 meioses examined, 12 (27%) demonstrated a change in CAG repeat number. Both expansions and contractions were observed, although their magnitude was small. There was a greater rate of instability in male meiosis than in female meiosis. We also found evidence for a correlation between disease severity and CAG repeat length, but other factors seem to contribute to the phenotypic variability in this disorder. |
| Databáze: | OpenAIRE |
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