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AD inheritance

Disease that affects every generation Dominant
Disease affects mostly males X linked
Father gave disease to son Autosomal Dominant
All the daughters of a male affected are also affected X linked dominant
Penetrance the probability of individuals with a particular genotype manifesting with the condition
Expressivity the extent of expression of a given genotype at the phenotypic level, e.g., the extent of disease manifestation
Example of Expressivity Patients with Marfan syndrome present with highly variable manifestations of the disease
Pleiotropy one gene contributes to multiple phenotypic effects, e.g., affects multiple organ systems
Examples or pleiotropy phenylketonuria, Marfan syndrome, sickle cell disease
Compound heterozygosity If the same gene on both chromosomes is altered due to differently mutated alleles, the affected gene may lose its function despite the mutation not being homozygous.
Anticipation describes when a disease increases in severity over several generations or manifests earlier with each generation. Often occurs in trinucleotide repeat disorders
Example of Anticipation Huntington disease
Allelic heterogeneity Different mutations in the same allele result in the same phenotype.
Example of Allelic Heterogeneity most single-gene related disorders, e.g., G6PD deficiency, familial hypercholesterolemia, β-thalassemia
Locus heterogeneity Mutations in genes at different loci cause the same phenotype.
Examples of Allelic Heterogeneity osteogenesis imperfecta, albinism
Autosomal Dominant Disorders Achondroplasia, DiGeorge Syndrome, Familial Hypercholesterolemia, Huntington disease, Li-Fraumeni Syndrome, Malignant Hyperthermia, Myotonic Dystrophy, Neurofibromatosis Type I, Osteogenesis Imperfecta, Retinoblastoma, Von Hippel-Lindau Syndrome
NF1 AD Neurofibromas (benign fleshy tumors) in the skin or, Café-au-lait spots , optic gliomas, lisch nodules, Scoliosis, sphenoid dysplasia HTN, renovascular, at Chromosome 17, Neurofibromin
About 50% cases are due to new mutations in NF1
Familial Hypercholesterolemia AD cause of Coronary Heart Disease (CHD). A number of single gene forms (allelic heterogeneity). LDL receptor gene which recognizes apoprotein B-100 is mapped to chromosome 19.
Huntington Disease AD due to CAG repeat expansion in the HD gene on chromosome 4. Causes damage in brain from accumulation of huntingtin protein. After 50 progressive dementia, and aggressive behavior, depression. elevated dopamine levels, and reduced GABA and acetylcholine
Osteogenesis Imperfecta (OI) AD congenital disorder of type 1 collagen chromosome 17. Blue sclera. Curved bones. Brittle teeth
Von Hippel-Lindau syndrome AD tumors arising in multiple organs hemangioblastomas, which are blood vessel tumors of the brain, spinal cord, and eye. chromosome 3. MutRenalCnsPancreatic
VHL gene provides instructions for the VCB-CUL2 complex. This complex targets other proteins to be broken down (degraded) by the cell when they are no longer needed.
Tuberous Sclerosis AD Mutation in either TSC1 or TSC2 Altered hamartin-tuberin complex Benign tumors (Hamartomas)
Polycystic kidney disease AD in dominant chromosome 16 or 4 altered polycystin 1 or 2 gene onset in adulthood. bilateral flank masses
Cystic Fibrosis AR. CFTR defect. bilateral flank masses
Commonest Mutation of CF in all ethnic groups is a 3 bp deletion : Loss of phenylalanine residue at position 508
Trypsinogen test for newborns or sweat test used to test CF
TAY-SACHS DISEASE (AR) Neurological degenerative disease. Severe mental retardation and physical deterioration. Onset during infancy (about 6 months) - death by 2 ~ 3 yrs.
mutation at the HEX A gene locus (Chromosome 15) ganglioside GM2, increases and degenerates central nervous system Cherry-red spot in the back of their eyes Tay-sachs disease
Hemochromatosis missense mutation (Cys282Tyr - replaces cysteine at position 282 with a tyrosine in the HFE gene) Disease caused by iron (hemosiderin) deposition hemosiderosis. Cirrhosis, Diabetes mellitus and skin pigmentation
testicular atrophy and increased risk of hepatocellular carcinoma. Ferritin hi, iron hi, TIBC low transferrin saturation, Late onset Hemochromatosis
Alpha-1 Antitrypsin Defficiency made mainly in the liver. Gets trapped and leads to liver disease. lack of Alpha-1 in the blood leads to lung disease
Created by: splashgreen



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