Page 1350 - Clinical Immunology_ Principles and Practice ( PDFDrive )

CHaPTEr 96 Molecular Methods 1310.e1

MU l TIP l E-CHOICE QUESTIONS

1. Population screening for carrier status in genes that B. Array comparative genomic hybridization (aCGH)
cause primary immunodeficiencies (PIDs) is made more C. Sanger sequencing of the TBX1 gene
difficult by: D. Next-generation sequencing whole exome sequencing
A. The prominent role of triplet repeat expansions among 3. Next-generation sequencing (NGS) diagnostics used many
causative mutations bioinformatics methods, including:
B. Most primary immune deficiencies being inherited as A. Base calling from raw instrument data (primary analysis)
autosomal dominant traits B. Demultiplexing, alignment to the reference genome, and
C. A large number of different genes (locus heterogeneity) and variant calling (secondary analysis)
many very rare pathogenic variants (allelic heterogeneity) C. Annotation of variants for their predicted effect on proteins
D. Most carriers coming from populations with a history of and splicing
consanguinity
D. Classification of variants for their likely role in causing
2. In the workup of a newborn with congenital heart disease, disease
hypocalcemia, and absent thymus, the optimal testing E. All of the above
approach is:
A. Fluorescent in situ hybridization (FISH) for 22q11
microdeletions