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Flashcards in Biochemistry Deck (372)
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241

What is imprinted in Angleman? Deleted?

mother = deleted

father = imprinted

242

What type of genetic disease are at an increased risk of affecting children in consanguineous families?

autosomal recessive

243

What does FGF23 do to phosphate reabsorption?

decreases it

244

Is FGF23 increased or decreased in its activity during Hypophosphatemic Ricketts?

increased

245

Which tRNA is affected by MERRF?

tRNA-lysine

246

Is autosomal dominant polycystic kidney disease unilateral or bilateral?

always bilateral

247

What two proteins are affected in Hereditary Spherocytosis?

spectrin and ankyrin

248

What does hereditary spherocytosis lead to?

hemolytic anemia

249

What is the function of ankyrin and spectrin?

allow RBC to change shape

250

What is the inheritance pattern of Hereditary Spherocytosis?

Autosomal Dominance

251

What specific part of the brain atrophies during Huntingtons?

Caudate

252

What is the mode of inheritance for Huntingtons?

Autosomal Dominant

253

What is the mode of inheritance for Marfans?

Autosomal dominant

254

What are the five tissues susceptible to MEN?

1. parathyroid
2. pancreas
3. pituitary
4. thyroid
5. adrenal medulla

255

What forms of MEN are associated with ret gene?

2A and 2B

256

What is the mode of inheritance of multiple endocrine neoplasia?

autosomal dominant

257

What is the mode of inheritance of NF2?

autosomal dominant

258

Are cafe-au-lait spots indicative of NF1 or NF2?

NF1

259

Are cafe-au-lait spots indicative of NF1 or NF2?

NF1

260

What is another name for NF1? What chromosome?

von Recklinghausen

17

261

Are cutaneous neurofibromas indicative of NF1 or NF2?

NF1

262

What is the mode of inheritance for both neurofibromatosis?

autosomal dominant

263

What two proteins are mutated during Tuberous Sclerosis?

Hamartin and Tuberin

264

What type of protein is VHL?

E3 ubiquitin ligase

265

What is the mode of inheritance for VHL?

autosomal dominant

266

What is the common bug in lung infections for CF patients?

Pseudomonas

267

What is the function of N-acetylcysteine?

to cleave mucus plugs

268

What structure can be absent in males with CF?

vas deferens

269

What vitamins can be absent in a patient with CF?

A, D, E and K

270

What type of muscles experience pseudohypertrophy in DMD?

calf muscles