Down Syndrome A Complex Disease - Learning Server唐氏综合症的一个复杂的疾病-学习服务器.pptVIP

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2018-06-23 发布于浙江
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Down Syndrome A Complex Disease - Learning Server唐氏综合症的一个复杂的疾病-学习服务器.ppt

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Down Syndrome A Complex Disease - Learning Server唐氏综合症的一个复杂的疾病-学习服务器

Down Syndrome: A Complex Disease Dr Una Fairbrother Down Syndrome (DS) Affects one in about 700-1000 newborns Most significant genetic cause of mild to moderate mental retardation Due to alterations in neural development. Trisomy 21 or DS Only autosomal aneuploidy not lethal in the fetal or early postnatal period DS phenotypes show variable penetrance, affecting many different organs Clinical features of neonates with DS Flat facial profile, 90% Hypotonia, 80% Poor moro reflex, 85% Hyperflexibility of joints, 80% Excess skin on back of neck, 80% Slanted palpebral fissures, 80% Pelvic dysplasia, 70% Anomalous ears, 60% Dysplasia of mid joint of 5th finger, 60% Simian crease, 45% Down Syndrome – Disease Phenotype Mental retardation, Congenital malformations of the heart and gastrointestinal tract, Duodenal stenosis or atresia, Imperforate anus, Hirschsprung disease, Leukemia, Hearing loss, Alzheimer disease and others Human Chromosome 21 Many other disorders involving Chr21 genes 165 hits on OMIM including: Familial amyotrophic lateral sclerosis (SOD1 gene) Bethlem myopathy (COL6A1, A2 and A3) Acute myeloid leukemia (AML1) Chromosome 21 Structure Length of the short arm can vary greatly between individuals First example of large genomic region that can expand or contract on a scale of many mega bases Long arm: 225 genes originally identified (545 on chromosome 22) How Does Trisomy Arise? 95% of DS arises from non-disjunction of homologous chromosomes during 1st meiotic division in oogenesis Homogeneity means that phenotype severity cannot be predicted from the karyotype Need to understand the pathology and identify candidate genes Down Syndrome Research Functions of most of the Chromosome 21 genes are largely unknown As is their contribution, to the DS phenotype. Trisomy and Disease How does an extra copy of all or part of Chr21 result in the DS phenotype? Specific case of the more general problem - how does chromosomal imbalance produce abnormalities in mor