6.1 Biochem Iv

Front 1

1. So you know that DMD is X-linked and recessive; What is the genetic mutation that causes it?

2. Which is a more common cause of Down's: nondisjunction or Robertsonian Translocation?

3. Describe ultrasound of a baby with Down's syndrome?

Back 1

1. frameshift mutation w/ deletion of gene

2. 95% non-disjunction

3. nuchal translucency

Front 2

1. Describe the S/S of Fragile X?

2. Compare a pericentric and a paracentric inversion with respect to the part of the chromosome involved and the associated problems with meiosis?

Back 2

1. X-tra large: jaw, ears, testes with autism

2. pericentric: involves centromere and can proceed through meiosis; paracentric: don't involve centromere and cannot proceed through meiosis

Front 3

1. What laboratory value is helpful in diagnosing DMD?

2. What are the S/S of DiGeorge Syndrome?

3. What are the S/S of Velocardiofacial syndrome?

Back 3

1. CPK

2. CATCH22: Cardiac, Abnl facies, Thymus, Cleft palate, Hypocalcemia

3. Cleft Palate, Abnl Facies, Cardiac defects

Front 4

1. What gene is associated with Fragile X

2. Diagnose: Happy Elf

3. What chromosome is associated with ADPKD?

Back 4

1. FMR1 gene

2. Williams syndrome

3. polycystic kidney: 16 letters/Chr. 16

Front 5

1. Name two conditions affected by a microdeletion in Chromosome 22?

2. Is ADPKD bilateral or unilateral?

3. Diagnose: bilateral acoustic neuroma?

Back 5

1. DiGeorge and Velocardialfacial

2. ALWAYS bilateral

3. Neurofibromatosis 2

Front 6

1. S/S of Hereditary Hemorrhagic Telangiectasia?

2. Chromosome associated with Huntington's?

3. What are the S/S of Neurofibromatosis I?

Back 6

1. bleeding, telangiectasia/AVM,

2. Chr. 4

3. CAFES: Cafespots, Axillary freckling, Fibroma/optic neuroma, Eye lisch nodule, skeletal bowing

Front 7

1. Diagram the HMP shunt with its enzymes and products?

2. Diagram the formation of hypochlorite in the respiratory burst pathway with appropriate enzymes?

Back 7

1. SEE SHEET

2. SEE SHEET

Front 8

1. Serotonin and Melatonin derive from what amino acid?

2. Diagram the PKU pathway?

3. Deficiency of what enzyme is implicated in alkaptonuria?

Back 8

1. tryptophan

2. SEE SHEET

3. homogentisic acid oxidase

Front 9

1. Histamine derives from what amino acid?

2. Alkaptonuria is an deficiency in the enyzmatic degradation of what amino acid?

Back 9

1. histidine

2. tyrosine

Front 10

1. Heme is derived from what amino acid?

2. What is the pathognomonic S/S for alkaptonuria/onchronosis?

3. Diagram the homycystine pathway with appropriate enzymes?

Back 10

1. glycine

2. black urine upon standing

3. SEE SHEET

Front 11

1. GABA is derived from what amino acid?

2. Deficiency of what enzyme is the problem in maple syrup disease?

3. What are the two etiologies of albinism?

Back 11

1. glutamate

2. α-ketoacid dehydrogenase

3. (a) absent tyrosinase (b) absent tyrosine transporters

Front 12

1. From what amino acid does melanin come from? (SEE SHEET, if necessary)

2. What is the relationship between CDKs and cyclins?

Back 12

1. Tyrosine (actually from L-dopa)

2. CDKs are constitutive and must be activated/inactivated by cyclins in order for cell cycles to proceed normally