Molecular Mechanisms of Non-Mendelian Inheritance in Genetic Diseases
作者:
Elena Samilchuk,
Talaat Farag,
Sadika Al-Awadi,
期刊:
Medical Principles and Practice
(Karger Available online 1994)
卷期:
Volume 4,
issue 1
页码: 1-7
ISSN:1011-7571
年代: 1994
DOI:10.1159/000157481
出版商: S. Karger AG
关键词: Anticipation;Genomic imprinting;Mitochondrial DNA mutations;Uniparental disomy;Unstable trinucleotide repeats
数据来源: Karger
摘要:
Recently identified molecular mechanisms (mitochondrial DNA mutations, genomic imprinting, uniparental disomy, unstable trinucleotide repeats) responsible for the non-Mendelian patterns of some genetic diseases are reviewed. Among the diseases considered are LHON (Leber’s hereditary optic neuropathy), MERRF (myoclonic epilepsy with ragged-red fibers), MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes), Prader-Willi syndrome, Angelman syndrome, fragile-X syndrome, myotonic dystrophy, as well as other
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