Exam 1 Review Flashcards
Achondroplasia inheritance
Autosomal dominant
Achondroplasia defect
FGFR3
Achondroplasia phenotype
Dwarfism
Familial hypercholesterolemia inheritance
Autosomal dominant
Familial hypercholesterolemia defect
LDL receptor
Familial hypercholeterolemia phenotype
High scholesterol and heart disease
Osteogenesis imperfecta inheritance
Autosomal dominant
Osteogenesis imperfecta defect
Type I procollagen defects
OI type I–tarda–brittle bones
OI type II–congenita–subs bulky side chains
Osteogenesis imperfecta phenotype
Brittle bone disease
Blue sclera
Marfan’s syndrome inheritance
Autosomal dominant
Marfan’s syndrome defect
Fibrillin I mutation
Marfan’s syndrome phenotype
Hyperextensible joints, arachnodactyly, tall with long limbs, risk for aortic aneurysm
Neurofibromatosis I inheritance
Autosomal dominant
NF I defect
Neurofibromin mutation
NF I phenotype
Cafe au lait spots, Lisch nodules, neurofibromas, axillary freckling
APCKD inheritance
Autosomal dominant
APCKD defect
Genes for nephrons
APCKD phenotype
Cystic nephrons (<5%)
Huntington’s inheritance
Autosomal dominant
Huntington’s defect
CAG expansion
Huntington’s phenotype
Dementia, memory loss, choreic movement
Destruction of caudate, putamen, internal capsule, coronal radiata
Cystic fibrosis inheritance
Autosomal recessive
1/25 people is a carrier
CF defect
Up to 900 mutations in CFTR
CF phenotype
Lung fibrosis, thick mucus, pancreatic insufficiency
Albinism inheritance
Autosomal recessive
Albinism defect
Tyrosinase gene mutation–>lack of melanin
Albinism phenotype
Lack of coloring in skin, hair, etc
Sickle cell inheritance
Autosomal recessive
Sickle cell defect
Glu–>Val on Beta 6 chain
Sickle cell phenotype
Sickle-shaped cells, bone pain, fever, fatigue, infections
Thalassemia inheritance
Autosomal recessive
Thalassemia defect
Alpha or beta globin gene
Thalassemia phenotype
Hepatosplenomegaly and anemia
Hereditary hemochromatosis inheritance
Autosomal recessive
Hereditary hemochromatosis defect
Leading to iron overload
Hereditary hemochromatosis phenotype
Liver cirrhosis, diabetes, heart disease, bronze skin
Tay Sachs inheritance
Autosomal recessive
Tay Sachs defect
Hexosaminidase A deficiency
Tay Sachs phenotype
Lysosomal storage disorder
Seizures
Blindness
Death
PKU inheritance
Autosomal recessive
PKU defect
Phenylalanine hydroxylase
PKU phenotype
Mental retardation
Hypophosphatemic rickets inheritance
X-linked dominant
Hypophosphatemic rickets defect
Phosphate uptake in kidneys
Hypophosphatemic rickets phenotype
Soft bones
Rett syndrome inheritance
X-linked dominant
Rett syndrome defect
Neurodevelopment disorder
Rett syndrome phenotype
Autism affecting only girls–boys don’t survive
Microcephaly, loss of movement and coordination
Duchenne muscular dystrophy inheritance
X-linked recessive
DMD defect
Dystrophin gene mutation
DMD phenotype
Muscle degeneration and weakness
Hemophilia inheritance
X-linked recessive
Hemophilia defect
A: defect in VIII
B: defect in IX
C: defect in XI
Hemophilia phenotype
Bleeding into joints and hematomas
G6PD deficiency inheritance
X-linked recessive
G6PD defect
Lack of glucose-6-phosphate dehydrogenase
G6PD phenotype
Normal until triggered, then hemolytic anemia
Fragile X inheritance
X-linked dominant
Fragile X defect
CGG expansion in 5’ UTR of FMR gene
Fragile X phenotype
Mental retardation, long face, long ears
Autosomal dominant risk
50%
Autosomal recessive risk
25%
X-linked dominant risk
50% of all children
X-linked recessive risk
50% of sons of carrier mothers
