Page 490 - Clinical Immunology_ Principles and Practice ( PDFDrive )

CHaPTEr 33 Human Genomics in Immunology 470.e1

MULTIPLE-CHOICE QUESTIONS

1. Which of the following variations in a gene expressed in T 2. True or False: A human inherited immunodeficiency caused
lymphocytes is MOST likely to be deleterious, capable of by mutation of single gene can reliably be reproduced in the
causing a human immune disorder if found in homozygosity: mouse by knockout of the orthologous murine gene.
A. A single nucleotide substitution AAA (lysine) ≥ TAA (stop) 3. DiGeorge syndrome is most commonly caused by:
in an early exon of a gene required for T-cell receptor A. A single nucleotide variation
rearrangement B. A copy number variation
B. A single nucleotide substitution CTC (leucine) ≥ ATC C. A retrotransposition
(isoleucine) in a gene encoding a cytokine receptor D. An indel mutation
C. Deletion of 6 amino acids (CAACAA) in a short tandem
repeat (STR) consisting of (CAA) 10 in the 3’ untranslated
portion of a gene expressed in all lymphocytes