Quiz

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Quiz 1: Heritable Disease Genetics

Question 1: What's an example of a monogenetic disorder?

Question 2: What's an example of a multifactorial inheritance disorder?

Question 3: What disease is caused by chromosomal translocation?

Question 4: What chromosome is affected in Prader-Willi syndrome?

Question 5: What chromosome is affected in Down syndrome?

Question 6: Name the mode of inheritance for Huntington Disease

Question 7: Name the mode of inheritance for Phenylketonuria

Question 8: What technology can find disease-causing genes for monogenetic disorders?

Question 9: What technology can identify disease causing genes for complex disorders?

Question 10: Large triplet repeat expansions can be detected by...

Chronic Myeloid Leukaemia

Polycystic kidney disease

Autosomal dominant

Alzheimer's disease

Next generation sequencing or microarrays

Fragment analysis (e.g. SeqStudio system)

Chromosome 15

Autosomal recessive

Chromosome 21

Sanger or next generation sequencing

Quiz 2: Exploring gene function

Question 1: What is a function of non-coding DNA?

Question 2: Expression of only the maternal or paternal gene allele is called what?

Question 3: What is the "P" in CRISPR?

Question 4: What type of protein is coded by the Cas9 gene?

Question 5: What is produced during translation of mRNA?

Question 6: What type of functional variant causes Huntingdon disease?

Question 7: What scalable technology enables fast, targeted studies of RNA expression, SNPs and CNVs?

Question 8: What is the most common type of genomic variant?

Question 9: What technology enables allele-specific expression studies of novel genomic variants?

Question 10: What is an example of small non-coding RNA?

Question 11: What technology can do broad transcriptome analysis of non-coding RNAs and coding transcripts, exons and splice variants in one experiment?

microRNA

RNASeq (e.g. Ion GeneStudio S5 System)

Transfer RNA production

Imprinting

Microarray

Copy number variation

Endonuclease

Single nucleotide polymorphism

Palindromic

qPCR (e.g. with TaqMan Assays)

Polypeptide

Quiz 3: Reproductive health

Question 1: What microarray can screen for 600 disorders in one expanded carrier screening assay?

Question 2: What type of genomic variant enables individual alleles to be discerned in microarray analysis?

Question 3: If there are an abnormal number of chromosomes in a cell, what is this called?

Question 4: Cystic fibrosis is a genetic condition that is primarily caused by what genetic variation?

Question 5: In what condition does a child receive 2 copies of a chromosome, from one parent and none from the other?

Question 6: Which NGS technology complements exon level microarray in high sensitivity clinical research?

Question 7: What central resource defines the clinical relevance of genes and variants in presision medicine?

Question 8: What technology is recommended by ACOG and others as the first tier test in intellectual disability?

Question 9: Duchenne muscular dystrophy and alpha-thalassemia are examples of what variation?

Question 10: The ERA test helps avoid implantation failure by establishing the best day for embryo transfer, what is ERA?

Aneuploidy

CarrierScan Assay

Structural variation (copy number)

Endometrial Receptivity Analysis

ClinGen

Chromosomal microarray (CMA)

Sequence variants

Uniparental disomy

Single Nucleotide Polymorphisms (SNPs)

Whole Exome Sequencing (WES)