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Flashcards in Biochemistry Deck (372)
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331

Which disease is known to have variable expresstivity?

NF1

332

Which disease is known to have Incomplete Penetrance?

BRCA

333

Which disease is known to have Pleiotropy?

PKU

334

What disease is fatal if somatic but survivable if mosaic?

McCune Albright

335

Does RB release E2F when hyper or hypo phosphorylated?

hyper

336

What is the function of p27?

cell cycle inhibitor

337

What is heterodisomy?

inheritance of two non-identical chromosomes from a parent

338

Heterodisomy indicates an error in what stage of replication?

meiosis one

339

What is isodisomy?

inheritance of two identical chromosomes from a parent

340

Isodisomy indicates an error in what stage of replication?

meiosis two

341

What is the sole lipoprotein of LDL?

B-100

342

What are allotypes?

inherited constant regions of heavy and light Ig

343

What is an Idiotype?

antigen recognition sequence of immunoglobulin

344

What are the three X-Linked Dominant diseases?

Hypophosphatemic rickets

Rett Syndrome

Fragile X

345

What enzymes are deficient in MERRF?

oxidative phosphorylation

346

Which acid/base abnormality can present during MERRF?

lactic acidosis

347

Which cranial nerve abnormality can MERFF have?

hearing loss

348

Which B-vitamin deficiency can be mimmicked in MERFF? Manifesting as?

B2

night blindness

349

What does MELAS mean?

Myoclonic epilepsy with lactic acidosis and stroke like symptoms

350

Which chromosome is PKD1 on?

16

351

Which chromosome is PKD2 on?

4

352

What is the mode of inheritance of Familial Hypercholesterolemia?

AD

353

Does Huntingtons have an increased or decreases level of Ach?

decreased

354

Marfan Syndrome involves what chromosome?

15

355

What is the diretion of the lens Sublaxation during Marfan?

upward

temporally

356

What disease presents with Multiple Benign Hamartomas?

Tuberous Sclerosis

357

What four cancera arise during LiFraumeni?

Sarcoma

breast

Leukemia

Adrenal

358

What is the mode of inheritance for LiFraumeni Syndrome?

AD

359

What protein does VHL bind and inhibit?

HIF-1-alpha

360

What type of protein does VHL act like?

E3 ubiquitin ligase