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10 Cards in this Set
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- Back
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What is the deficiency in SCID
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x-linked recessive
Adenosine deaminase deficiency- prevents DNA synthesis and thus decreases lymphocyte count |
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What is the deficiency in Lesch-Nyhan Syndrome
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Absent HGPRT in purine salvage resulting in excessive uric acid-
MR, self-mutilation, aggression, hyperuricemia, gout, choreothetosis. |
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What is the deficiency in xeroderma pigmentosa
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Base excision repair preventing repair of thymine dimers- dry skin, melanoma, and other cancers
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What is the deficiency in HMPCC
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Mismatch repiar where the unmethylated newly synthesized string is recognized and mismatches are removed
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What do patients with Lupus make antibodies to?
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splicesomal snRNPs
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What is the deficiency in I-cell disease
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lysomsomal storage disorder where there is failure of the addition of mannose-6-phosphate to lysomsomal proteins- coarse facial features, clouded corneas, restricted jt movement, and high lysosomal enzyme levels.
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What is deficient in Chediak-Higashi syndrome?
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microtubule polymerization resulting in decreased phagocytosis-
recurrent pyogenic infections, partial albinism, and peripheral neuropathy. |
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What is the defect in Kartagener's syndrome?
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immotile cilia due to a dynein arm defect resulting in infertility, broncheictasis, and recurrent sinusitis
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What part of collagen synthesis is inhibited in scurvy
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hydroxylation of specific proline and lysine residues in the ER with enzymes requiring vitamin C
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What step of collagen synthesis is absent in Osteogenesis Imperfecta
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glycosylation of pro-alpha-chain lysine residues and formation of procollagen
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