Genetic Diseases Quiz

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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?

Barakat syndrome Signup and view all the answers

What genetic condition is characterized by the Bombay phenotype?

Green/blue eye colour Signup and view all the answers

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

Pallister-Killian syndrome Signup and view all the answers

What is the primary purpose of alternative splicing?

To produce multiple proteins from a single gene Signup and view all the answers

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

Messenger RNA (mRNA) Signup and view all the answers

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

To control gene expression Signup and view all the answers

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

Centromeres Signup and view all the answers

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

To initiate transcription Signup and view all the answers

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

Some non-coding DNA is functional, while other regions appear to be non-functional Signup and view all the answers

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

RefSeq Signup and view all the answers

The NCBI Gene database is best described as:

A gene-centric database containing data from multiple species Signup and view all the answers

Which of the following statements about Gencode is NOT true?

It focuses solely on protein-coding genes Signup and view all the answers

The UCSC Genome Browser and Ensembl are examples of:

Genome browsers that allow online viewing and download of genomic data 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?

NCBI Protein Signup and view all the answers

Which of the following statements about database formats is true?

Each database has its own unique data format Signup and view all the answers

What is the primary purpose of the ClinVar database?

To provide information on the association between human genetic variation and phenotypes Signup and view all the answers

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

Gene Expression Omnibus (GEO) Signup and view all the answers

What is the primary function of the PubMed database?

To index scientific articles related to biomedical and life sciences research Signup and view all the answers

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

GenBank Signup and view all the answers

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

Discussing the use of bioinformatics in the field of molecular genetics Signup and view all the answers

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

To represent the primary sequence of a DNA molecule Signup and view all the answers

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

They represent the orientation of the sugar-phosphate backbone Signup and view all the answers

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

To participate in the formation of the phosphodiester bond Signup and view all the answers

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

It refers to the position of the carbon atoms in the sugar ring Signup and view all the answers

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

To connect one nucleotide to the next in the nucleic acid chain Signup and view all the answers