4/14/08, #1

Front 1

SCID is due to what enzyme deficiency?

Back 1

Adenosine Deaminase Deficiency (excess ATP, dATP -> imbalanced nucleotide pool and inhibition of production of other nucleotides -> dec. lymphocyte count)

Front 2

Lesch-Nyhan Syndrome due to what enzyme deficiency?

Back 2

HGPRT (He's Got Purine Recovery Trouble) -> excess uric acid production -> gout)

Front 3

What are the only triacylcglycerol components that can contribute to gluconeogenesis?

Back 3

1) glycerol
2) propionyl-CoA from odd-chain FFA metabolism

Front 4

Df: Nature and severity of the phenotype varies from 1 individual to another.

Back 4

Variable expression

Front 5

Df: Not all individuals with a mutant genotype show the mutant phenotype.

Back 5

Incomplete penetrance

Front 6

Df: Differences in phenotype depend on whether mutation is of maternal or paternal origin.

Back 6

Imprinting

Front 7

Angelman's Syndrome due to maternal or paternal deletion?

Back 7

Maternal (angelMan's syndrome). Paternal allele inactive via imprinting/inactivation by methylation.

Front 8

Prader-Willi syndrome due to maternal or paternal deletion?

Back 8

Paternal (Prader-willi)

Front 9

Df: If a pt inherits or develops mutation in tumor suppressor gene, complementary allele must be deleted/mutated before cancer develops.

Back 9

Loss of heterozygosity (not true of oncogenes)

Front 10

Df: Exerts a dominant effect. A heterozygote produces a nonfunctional altered protein that also prevents normal gene product from functioning.

Back 10

Dominant negative mutation

Front 11

Df: Tendency for certain alleles at 2 linked loci to occur together more often than expected by chance. Measured in a population, not in a family, and often varies in different populations.

Back 11

Linkage disequilibrium

Front 12

Occurs when cells in body have different genetic makeup (e.g., lyonization -- random X inactivation in females).

Back 12

Mosaicism

Front 13

Df: Mutations at different loci can produce the same phenotype (e.g., albinism).

Back 13

Locus heterogeneity

Front 14

Df: presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrial inherited diseases.

Back 14

Heteroplasmy

Front 15

Df: Offspring receives two copies of a chromosme from 1 parent and no copies from the other parent.

Back 15

Uniparental disomy

Front 16

Mental retardation, obesity, hypogonadism, hypotonia -- disorder?

Back 16

Prader-Willi syndrome (deletion of normally active paternal allele)

Front 17

Mental retardation, seizures, ataxia, inappropriate laughter (happy puppet) -- disorder?

Back 17

Angelman's syndrome (deletion of normally active maternal allele).

Front 18

Hypophosphatemic rickets is due to what type of genetic mode of inheritance?

Back 18

X-linked dominant.

Front 19

Leber's hereditary optic neuropathy due to what type of genetic mode of inheritance?

Back 19

Mitochondrial inheritance

Front 20

Where do tendon xanthomas classically present (familial hypercholesterolemia)?

Back 20

Achilles tendon

Front 21

Which disorder is found on long arm of chromosme 17?

Back 21

Neurofibromatosis type 1 (von Recklinghausen's disease). Note: 17 letters in von Recklinghausen!

Front 22

What disorder? Facial lesions, hypopigmented "ash leaf spots" on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cysts and angiomyolipomas, cardiac rhabdomyomas, inc. incidence of astrocytomas. Incomplete penetrance, variable presentation.

Back 22

Tuberous sclerosis

Front 23

Which chromosome is affected in von-Hippel-Lindau disease?

Back 23

Chromosome 3 (three words in von Hippel-Lindau). VHL (tumor suppressor) gene affected.

Front 24

What disorder? Hemagioblastomas of retina/cerebellum/medulla. Multiple bilateral renal cell carcinomas and other tumors?

Back 24

von Hippel-Lindau disease

Front 25

What chromosome is Huntington's Disease mutation on?

Back 25

Chromosome 4 (Hunting 4 food).

Front 26

Deletion on what chromosome results in Familial Adenomatous Polyposis disease?

Back 26

Chromosome 5 (APC gene). Mnemonic: 5 letters in polyp.

Front 27

Autosomal dominant cell-signaling defect of fibroblast growth factor (FGF) receptor 3 leads to what disorder?

Back 27

Achondroplasia (dwarfism, short limbs, normal sized head and trunk). Associated with advanced paternal age.

Front 28

Which autosomal dominant disease is due to mutation of gene on chromosome 22?

Back 28

Neurofibromatosis type 2 (NF2 gene on Chromosome 22; type 2 = 22).

Front 29

Which disease manifests with bilateral acoustic neuroma and juvenile cataracts?

Back 29

Neurofibromatosis type 2

Front 30

Name all the X-linked recessive disorders.

Back 30

Mnemonic: Be Wise, Fool's GOLD Heeds False Hope.

Bruton's agammaglobulinemia, Wiskott-aldrich syndrome, Fragile X, G6PD deficiency, Ocular albinism, Lesch-nyhan syndrome, Duchenne's muscular dystrophy, Hemophilia A & B, Fabry's disease, Hunter's syndrome.

Front 31

Deletion of dystrophin gene leads to what disorder?

Back 31

Duchenne's muscular dystrophy (Duchenne's = Deleted Dystrophin)

Front 32

Which disorder is due to trisomy 21?

Back 32

Down's Syndrome (Drinking age = 21)

Front 33

Which disorder is due to trisomy 18?

Back 33

Edward's Syndrome (Election age = 18)

Front 34

Which disorder is due to Trisomy 13?

Back 34

Patau's Syndrome (Puberty = 13)

Front 35

What is the most common chromosomal disorder?

Back 35

Down's syndrome (1:700)

Front 36

Increased alpha-fetoprotein, decreased beta-hCG, and increased nuchal translucency during prenatal screening indicate what disorder in fetus?

Back 36

Down's syndrome

Front 37

What's the most common cause of mental retardation?

Back 37

Down's syndrome

Front 38

This type of inversion involves centromere; proceeds through meiosis.

Back 38

Pericentric chromosomal inversion

Front 39

This type of chromosomal inversion does not involve centromere; does not proceed through meiosis.

Back 39

Paracentric inversion

Front 40

A congenital deletion of the short arm of chromosme 5 leads to what disorder?

Back 40

Cri-du-chat syndrome (46, XX or XY, 5p-)

Front 41

Cleft palate, Abnormal facies, Thymic aplasia -> t-cell deficiency, Cardiac defects, and Hypocalcemia secondary to parthyroid aplasia are characteristic of what set of syndromes?

Back 41

22q11 syndromes (microdeletion at chromosome 22q11)

Front 42

What vitamin is required for synthesis of niacin from tryptophan?

Back 42

Vitamin B6 (pyridoxine)

Front 43

Delayed wound healing, hypogonadism, decr. adult hair (axillary, facial, pubic); may predispose to alcoholic cirrhosis. Dx?

Back 43

Zinc deficiency

Front 44

Deamination of cytosine makes what base?

Back 44

Uracil

Front 45

Which base has a methyl group?

Back 45

Thymine

Front 46

Which purine has a ketone?

Back 46

Guanine

Front 47

Ribonucleotides are converted to deoxyribonucleotides by what enzyme?

Back 47

Ribonucleotide reductase

Front 48

This enzyme degrades RNA primer laid down by primase and fills in the gap with DNA.

Back 48

DNA polymerase I (excises RNA primer w/ 5' -> 3' exonuclease)

Front 49

What antibiotic given to neonates leads to Gray Baby Syndrome?

Back 49

Chloramphenicol