Evidence of founder chromosomes in fragile X syndrome
| Autor: | R.I. Richards, K. Holman, K. Friend, E. Kremer, D. Hillen, A. Staples, W.T. Brown, P. Goonewardena, J. Tarleton, C. Schwartz, G.R. Sutherland |
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| Rok vydání: | 1992 |
| Předmět: |
Male
Genetics Polymorphism Genetic X Chromosome Base Sequence Haplotype Biology medicine.disease Penetrance Myotonic dystrophy Pedigree Fragile X syndrome Haplotypes Fragile X Syndrome Mutation Mutation (genetic algorithm) Anticipation (genetics) medicine Humans Female Mutation frequency Trinucleotide repeat expansion Repetitive Sequences Nucleic Acid |
| Zdroj: | Nature Genetics. 1:257-260 |
| ISSN: | 1546-1718 1061-4036 |
| DOI: | 10.1038/ng0792-257 |
| Popis: | The mutation responsible for fragile X syndrome and myotonic dystrophy involves the amplification of a simple trinucleotide repeat sequence, which increases in successive generations of affected pedigrees accounting for increasing penetrance of both disorders. This common molecular basis suggests that the two diseases may share other genetic features, but whereas myotonic dystrophy exhibits a significant founder chromosome effect, fragile X syndrome apparently has a very high mutation frequency. By haplotype analysis of microsatellite markers which flank the fragile X unstable element, we have uncovered evidence of founder chromosomes of the fragile X 'mutation'. Disorders caused by heritable unstable elements may therefore exhibit common genetic properties including anticipation and founder chromosomes. |
| Databáze: | OpenAIRE |
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