les_7_05112009 - multifactorial inheritance diseases that...

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diseases that are only partially genetic etiology: interaction between genetic and environmental factors often: family history, no Mendelian inheritance complex or polygenic conditions multifactorial inheritance
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multifactorial inheritance complex diseases
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monogenic polygenic - multifactorial
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‘liability model’
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= proportion of the variance in a phenotype, caused by genetic factors V P = variance in the phenotype V G = variance caused by genetic factors V E = variance caused by environmental factors V P = V G + V E heritability (h 2 )= V G /V P heritability
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heritability disease heritability schizofrenia 85% asthma 80% cleft lip/palate 76% pyloric stenosis 75% neural tube defects 62% hypertension 60%
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SNP single nucleotide polymorphisms VNTR variable number of tandem repeats transposon repeat polymorphisms inversion polymorphisms chromosomal polymorphisms and large scale sequence variants genetic variation in the human genome
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sequence alterations: polymorphism: variation in DNA sequence between individuals, groups and populations mutation: change in nucleotide sequence, usually associated with a disease polymorphism genetic variation in the human genome mutation DNA sequence protein
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polymorphisms: causal relationship to phenotype usually not clear effects on different levels (transcription, translation, protein, stability,. ..) genetic variation in the human genome transcription protein activity RNA stability protein-protein interactions splicing
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SNP AAAAGGT A TATAATT AAAAGGT G TATAATT SNP (single nucleotide polymorphism): single base pair changes most important source of genetic variaton in the genome (~90%) types: transition (between pyrimidines and purines among one another) transversion (from pyrimidine to purine and vice versa)
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sequence variability is expressed as nucleotide diversity the number of different nucleotides in two genomes, compared to the total number of investigated nucleotides SNP distribution is not uniform genome: 1/3 coding, 2/3 non coding chromosomes (e.g. less SNPs in sex chromosomes) intrachromosomally sequence variation and SNP distribution
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synonymous
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This note was uploaded on 05/28/2010 for the course WE BIBI000000 taught by Professor Johangrooten during the Spring '10 term at Ghent University.

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les_7_05112009 - multifactorial inheritance diseases that...

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