genetics CLIs Flashcards
what is an example of a helix-turn-helix mutation and the disorder caused
HOX genes and causes synpolydactyly and hand-foot-genital syndrome
what is an example of an helix-loop-helix mutation and the disorder caused
mutation in TWIST cause saethre-chotzen syndrome (acrocephalosyndactyly type 3)
what are examples of zinc finger mutations and what disorders are caused
BRCA1, WT1, GL13, vitamin D receptor gene (causes rickets)
what are some genes that are mutated with leucine zipper
RB1 and Jun and FOS oncogenes
what are some mutations with beta sheets and what disorders are caused
TBX family genes; TBX5 leads to holt-roam syndrome and TBX3 leads to ulnar-mammary syndrome
what are the stop codons
UAA, UGA, UAG
what type of osteogenesis imperfecta has mild bone fragility, blue sclera, few bone deformities, dentinogenesis imperfect in some cases
1
what type of osteogenesis imperfect is the most severe form with extreme bone fragility, long bone deformities, compressed femurs
2
what type of osteogenesis imperfect has severe bone fragility, very short stature, variably blue sclera, progressive bone deformities, dentinogenesis imperfect is common
3
what type of osteogenesis imperfect has short stature, normal sclera, mild to moderate bone deformity, hearing loss in some, dentinogenesis imperfect is common
4
what type of osteogenesis imperfect has white sclera, early lower limb deformities, congenital fractures, osteopenia
7
what positions in genetic code indicate leucine
UUA, UUG, CUU, CUC, CUA,
what positions in genetic code indicate Phe
UUU, UUC
what positions in genetic code indicate Ile
AUU, AUC, AUA
what position in genetic code indicate Met
AUG
what is the main characteristic of CF
pancreatic insufficiency (85%)
what is the major cause of mortality and morbidity with CF
pulmonary disease
what does CFTR do
encodes cAMP-regulated chloride ion channels that span the membranes of specialized epithelial cells
what is autosomal recessive inheritance characterized by
clustering of the disease phenotype among siblings, but the disease is not usually seen among parents or other ancestors. equal numbers of affected males and females are usually seen, and consanguinity may be present
what are autosomal dominant inheritance characterized by
vertical transmission of the disease phenotype, a lack of skipped generations, and a roughly equal number of affected males and females. father-to-son transmission may be observed
where is the mutation with huntington disease
CAG expanded repeat located in exon one
what type of disorder is NF1
autosomal dominant
describe retinitis pigmentosa
pregessive retinopathy and loss of vision
what is the brittle bone disease
osteogenesis imperfecta
what is the disease characterized by peripheral dementia
familial alzheimer disease
what disease is described by peripheral neuropatthy
charcot-marie-tooth disease
what disease is characterized be predisposition to early onset breast and ovarian cancer
autosomal dominant breast cancer
what disease is characterized by seizures, facial angiofibromas, hypo pigmented macule, mental retardation, multiple hamartomas
tuberous sclerosis
