Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We propose a new method for haplotyping, genotype calling, and association testing based on a dictionary model for haplotypes. In this framework, a haplotype arises as a concatenation of conserved haplotype segments, drawn from a predefined dictionary according to segment specific probabilities. The observed data consist of unphased multimarker genotypes gathered on a random sample of unrelated individuals. These genotypes are subject to mutation, genotyping errors, and missing data. The true pair of haplotypes corresponding to a person's multimarker genotype is reconstructed using a Markov chain that visits haplotype pairs according to their posterior probabilities. Our implementation of the chain alternates Gibbs steps, which rearrange the phase of a single marker, and Metropolis steps, which swap maternal and paternal haplotypes from a given maker onward. Output of the chain include the most likely haplotype pairs, the most likely genotypes at each marker, and the expected number of occurrences of each haplotype segment. Reconstruction accuracy is comparable to that achieved by the best existing algorithms. More importantly, the dictionary model yields expected counts of conserved haplotype segments. These imputed counts can serve as genetic predictors in association studies, as we illustrate by examples on cystic fibrosis, Friedreich's ataxia, and angiotensin-I converting enzyme levels.
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PMID:A dictionary model for haplotyping, genotype calling, and association testing. 1748 85

Vitamin E (alpha-and gamma-tocopherol) may slow the progression of a number of major degenerative diseases of the nervous system that appear to be significantly worsened by oxidative stress. The effects of vitamin E on excitoxicity in cultured neurones is considered, together with ataxia due to vitamin E deficiency (AVED) arising from abetalipoproteinaemia, cholestatic liver disease, cystic fibrosis, short bowel syndrome, total parenteral nutrition, diabetic peripheral neuropathy and familial isolated vitamin E (FIVE) deficiency. Selenium deficiency in Keshan disease is also described in relation to the cardiomyopathy seen in Friedreich's ataxia. Evidence for any beneficial effects of vitamin E upon the course of Friedreich's ataxia, tardive dyskinesia, amyotrophic lateral sclerosis (motor neurone disease), Parkinson's disease, Alzheimer's disease, and Huntington's disease is examined. The application of vitamin E derivatives as protective agents in posttraumatic injury to the nervous system (stroke, head and spinal cord injury and haemorrhage) is discussed.
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PMID:Vitamin E Status and Neurodegenerative Disease. 2740 31


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