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Flashcards in Biochemistry Deck (372)
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361

What chromosome is CFTR located on?

seven

362

What male genitourinary structure is affected during CFTR? What happens to it?

vas deferens

absent

363

Which two proteins does dystrophin bind?

actin

dystroglycan

364

Which trinucleotide disease can present with testicular atrophy?

myotonic dystrophy

365

What does the Myotonic of Myotonic Dystrophy lead to?

delayed muscle relaxation

366

What heart abnormality can present during Fragile X?

MVP

367

What disease is tested for by culturing lymphocytes with methotrexate or folate deficient medium and looking for breaks in chromosomes?

Fragile X

368

Which trisomy presents with a gap between the first two toes?

Downs

369

What type of ASD does Downs Syndrome present with?

Ostium Primum

370

Is PAPP-A increased or decreased during Downs?

increased

371

Are the short arms or long arms lost during a robertsonian translocation?

short

372

What ingested material can cause a deficiency in fat soluble vitamins?

Mineral Oil