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Showing posts with label Biochemistry. Show all posts
Showing posts with label Biochemistry. Show all posts
Thursday, December 23, 2010
Clinical Case: Newborn With Severe Acidosis, Vomiting, Hypotonia, and Neurologic Deficits
10:34 PM | 
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Clinical Vignette: A newborn presents with severe acidosis, vomiting, hypotonia, and neurologic deficits. Serum analysis reveals elevated levels of lactate and alanine. These observations suggest a deficiency in which of the following enzymes?
A. Alanine aminotransferase
B. Glutamate dehydrogenase
C. Lactate dehydrogenase
D. Pyruvate carboxylase
E. Pyruvate dehydrogenase
A. Alanine aminotransferase
B. Glutamate dehydrogenase
C. Lactate dehydrogenase
D. Pyruvate carboxylase
E. Pyruvate dehydrogenase
Tuesday, December 21, 2010
USMLE Genetics Question
Clinical Vignette: NlaIII is a restriction enzyme recognizing the short palindrome GTAC, which is not present in the normal exon 9. The researcher digests the amplified exon 9 with this enzyme, then subjects it to Southern blotting with a probe directed against the entire amplified region. Which of the following banding patterns would most likely be found in an individual heterozygous for the mutation described?
A. One thick band of 222 bp
B. Three bands of 180, 32 and 10 bp
C. Three bands of 222, 126 and 96 bp
D. Two thick bands of 126 and 96 bp
E. Two bands of 444 and 222 bp
A. One thick band of 222 bp
B. Three bands of 180, 32 and 10 bp
C. Three bands of 222, 126 and 96 bp
D. Two thick bands of 126 and 96 bp
E. Two bands of 444 and 222 bp
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