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Genetic Problems Outline, Genetic Problems ???? Mitochondrial, Factors that influence repeat size parent of origin repeat location stabilizing repeats ???? Long expansion-fragile sites repeat 10X normal outside protein code region CCG/CGG or CTG sequences eg-fragile X, DM, Genetic Problems ???? Multifactorial -600/1000, delayed age of onset- eg Breast CA adult polycystic kidney dz ???? penetrance-all or nothing could still transmit eg-HNPCC, split-hand variable expression- diff severity w/in same geno. eg-neurofibromatosis complete penetrance, Mut. of 3 nucs causes anticipation- worse w/ new generations -more and more repeats all relate to nervous system ???? Factors that influence repeat size parent of origin repeat location stabilizing repeats, Genetic Problems ???? Epigenetics, Imprinting centers cause Me-ation -problems w/ these centers->inactivate deletion or UPD->no recurrence risk increase point, or imp-center mutation-50% risk deletion on 15q Prader-Willi-Paternal deletion (1) mod. DD, short poor feeding massive obesity by 2yo treat w/ GH (2)also due to Me-ation of SNRPN thus no copies-> PWS (3)dad's chrom. leaves, Chromosomes ???? Numerical-> eg.Trisomy 13, 18, 21 Monosomy 45X-Turner Contiguous Gene del/dup 7, 11, 15 22 chrom. segment-> few-100 genes some disease-causing, some not detect through FISH, Mitochondrial all from mom Mito Enceph w/ Lactic A.&Stroke like A->G mut in tRNA gene -also terminates 2 rRNAs -lower muts in blood same mut ass'd w/ DM, deafness (MIDD), Genetic Problems ???? Trinucleotide Expansions