Genetic Diseases Quiz
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Questions and Answers

Which gene is associated with Tay-Sachs disease?

  • Haemoglobin alpha
  • Ribosomal RNA (correct)
  • Nonhistone chromosomal protein 1
  • Haemoglobin zeta

What is the defective gene in Phenylketonuria?

  • Collagen Ⅳ alpha 1 chain and alpha 2 chain
  • Phenylketonuria (correct)
  • Chromosome Gene
  • Ribosomal RNA

Which disorder involves a deficiency in the enzyme Hexokinase Ⅰ?

  • Ataxia telangiectasia
  • Pfeiffer syndrome (correct)
  • Tangier disease
  • Pallister-Killian syndrome

Which disease is linked to the ABO blood group system?

<p>Barakat syndrome (C)</p> Signup and view all the answers

What genetic condition is characterized by the Bombay phenotype?

<p>Green/blue eye colour (D)</p> Signup and view all the answers

In which syndrome is Collagen Ⅱ, alpha 1 gene involved?

<p>Pallister-Killian syndrome (A)</p> Signup and view all the answers

What is the primary purpose of alternative splicing?

<p>To produce multiple proteins from a single gene (B)</p> Signup and view all the answers

Which of the following is NOT a type of non-coding RNA?

<p>Messenger RNA (mRNA) (B)</p> Signup and view all the answers

What is the role of regulatory sequences in non-coding DNA?

<p>To control gene expression (B)</p> Signup and view all the answers

Which of the following is an example of a functional region of non-coding DNA?

<p>Centromeres (C)</p> Signup and view all the answers

What is the primary function of the TATA box in the context of gene expression?

<p>To initiate transcription (A)</p> Signup and view all the answers

Which of the following statements about non-coding DNA is correct?

<p>Some non-coding DNA is functional, while other regions appear to be non-functional (A)</p> Signup and view all the answers

Which of the following is NOT a primary nucleotide sequence database?

<p>RefSeq (A)</p> Signup and view all the answers

The NCBI Gene database is best described as:

<p>A gene-centric database containing data from multiple species (D)</p> Signup and view all the answers

Which of the following statements about Gencode is NOT true?

<p>It focuses solely on protein-coding genes (A)</p> Signup and view all the answers

The UCSC Genome Browser and Ensembl are examples of:

<p>Genome browsers that allow online viewing and download of genomic data (D)</p> Signup and view all the answers

Which of the following databases aggregates protein data from multiple sources, including curated entries from SwissProt, PIR, and PDB?

<p>NCBI Protein (B)</p> Signup and view all the answers

Which of the following statements about database formats is true?

<p>Each database has its own unique data format (A)</p> Signup and view all the answers

What is the primary purpose of the ClinVar database?

<p>To provide information on the association between human genetic variation and phenotypes (B)</p> Signup and view all the answers

Which of the following databases is specifically focused on collecting gene expression datasets?

<p>Gene Expression Omnibus (GEO) (C)</p> Signup and view all the answers

What is the primary function of the PubMed database?

<p>To index scientific articles related to biomedical and life sciences research (B)</p> Signup and view all the answers

Which of the following is not a database mentioned in the text?

<p>GenBank (B)</p> Signup and view all the answers

What is the primary focus of the $ ext{CC}_{xxx}$ - Bioinformatics (Molecular genetics) course?

<p>Discussing the use of bioinformatics in the field of molecular genetics (D)</p> Signup and view all the answers

What is the purpose of the FASTA format shown in the text?

<p>To represent the primary sequence of a DNA molecule (B)</p> Signup and view all the answers

What is the significance of the 5' and 3' ends of a nucleic acid chain?

<p>They represent the orientation of the sugar-phosphate backbone (C)</p> Signup and view all the answers

What is the purpose of the carbon atoms in the sugar ring of a nucleotide?

<p>To participate in the formation of the phosphodiester bond (D)</p> Signup and view all the answers

What is the significance of the term "prime" in the context of nucleic acid structure?

<p>It refers to the position of the carbon atoms in the sugar ring (C)</p> Signup and view all the answers

What is the role of the phosphate group in the nucleotide?

<p>To connect one nucleotide to the next in the nucleic acid chain (C)</p> Signup and view all the answers

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