les_2_01102009 - cytogenetic en molecular genetics clinical...

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cytogenetic en molecular genetics clinical relevance why perform genetic analyses? molecular and conventional cytogenetics classical karyotyping molecular karyotyping molecular cytogenetic techniques molecular genetics mutation detection mutation scanning
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clinical context perception: genetic diseases are rare however: ~3 to 7% of the population will develop a genetic disease 50% of infant mortality: hereditary disease common diseases: Alzheimer’s dementia, diabetes, hypertension, cancer, . ..
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clinical relevance diagnosis disease gene identification recurrence risk to the parents of an affected child prenatal and pre-implantation diagnosis presymptomatic testing in unaffected relatives prognosis evaluation of the spontaneous disease course expected disease manifestations therapy currently: limited implications (gene therapy, . ..) insights in pathogenic mechanisms: identification of targets for therapeutic intervention
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tissues for genetic analysis genomic DNA (gDNA) blood (EDTA - ethylenediaminetetraacetic acid) predominant source in routine genetics buccal cells (‘brush’) non invasive, limited DNA quantity chorionic villi and amniocytes prenatal diagnosis embryonic biopsy pre-implantation diagnosis cancer cells: tumour biopsies, bone marrow samples
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tissues for genetic analysis genomic DNA (gDNA) fibroblast cultures requires a surgical skin biopsy important source for RNA and protein studies EBV transformed cell lines limitless source of DNA/RNA paraffin sections poor DNA quality Guthrie card hair, sperm forensic analyses
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tissues for genetic analysis RNA: fibroblast cultures requires a surgical skin biopsy important source for RNA and protein studies short lymphocyte cultures advantages: evaluation of splicing defects sequencing: reduction of complexity (no introns) disadvantages: unstable (RNAse free procedures) nonsense mediated RNA decay tissue specific expression
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conventional cytogenetics - karyotyping indications: constitutional unexplained mental retardation congenital malformations, dysmorphic features miscarriage, mors in utero or neonatal death pregnancy maternal age reduced fertility segregation of a balanced translocation in the family disturbed pubertal development indications: malignancies hematological neoplasms (leukemia, lymphoma, . ..) solid tumors
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conventional cytogenetics - karyotyping counting chromosomes: easier said than done. .. 1923: Painter - number of human chromosomes: 48 1956: Tijo and Levan - correct enumeration of the number of chromsomes as 46 i.e.: 3 years later than the description of the double helix model by Watson and Crick!
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karyotyping: procedure blood sample short term culture (37 C, 48-72hr)) PHA-stimulation mitotic arrest (colchicin) hypotonic treatment fixation banding digital image acquisition karyotype
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conventional cytogenetics normal female karyotype
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les_2_01102009 - cytogenetic en molecular genetics clinical...

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