Genetics continued Flashcards
McCune-Albright syndrome
causes cafe-au-lait spots, precocious puberty, endocrine problems, and polyostic fibrous dysplasia (replacement of bone with fibrous tissue). lethal in somatic mutations but may be seen d/t mosaicism
hardy-weinburg equations
P + Q = 1. p^2 + 2pq + q^2 = 1. frequency of X linked recessive disease is q in males and q^2 in females. assumes no mutations, no natural selection, completely random mating, and no migration
Prader-Willi: symptoms, inheritance, chromosome
deletion or mutation or non-expression of the paternal gene. Maternal gene is imprinted and can’t be expressed. causes intellectual disability, hyperphagia, obesity, hypogonadism, hypotonia. 25% of cases d/t uniparental disomy from mom. chromosme 15
Angelman syndrome: symptoms, inheritance, chromosome
problem/deletion with maternal gene. causes “happy puppet syndrome:” severe intellectual disability, no speech, inappropriate laughter, seizures, ataxia. chromosome 15
hypophosphatemic rickets: inheritance, disease
X-linked dominant inheritance. increased phosphate wasting at the proximal tubule.
neurofibromatosis type I symptoms, inheritance, chromosome
autosomal dominant, cafe-au-lait spots, cutaneous neurofibromas. chromosome 17
von hippel lindau: chromosome
numberous tumors. associated with deletion of VHL tumor suppressor gene on chromosome 3
cystic fibrosis presentations
recurrent bronchitis, fat soluable vitamin deficiencies, infertility in males, meconium ileus, contraction alkalosis and hypokalemia
treatment for cystic fibrosis
N-acetylcystein to loosen mucus plugs and dornase alpha (DNase) to clear leukocytic debris)
Fragile X syndrome: genetics and symptoms
due to an X-linked problem with methylation and expression of FMR1 gene. see macroorchidism post-puberty, long face with large jaw, large ears, autism, and MITRAL VALVE PROLAPSE
