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Human Genetics - 2

Description: This test will help the students to revise their topics thoroughly.
Number of Questions: 15
Created by:
Tags: Genes translocation Genome Sequencing and Human Genome Project Human Genome Project Gene Expression and Regulation Regulation of Gene Expression
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Which among the following is/are used by viruses to insert their genetic material into the host genomes?

  1. Inverted repeat

  2. Direct repeats

  3. Long terminal repeats

  4. Tandem repeats

  5. Interspersed repetitive DNA elements


Correct Option: C
Explanation:

Long terminal repeats are identical sequences of DNA that repeat hundreds or thousands of times found at either end of retrotransposons or proviral DNA formed by reverse transcription of retroviral RNA. They are used by viruses to insert their genetic material into the host genomes.

The inserted gene may damage the function of one of the host's genes. Which among the following insertion causes loss of protein function in host genes?

  1. Insertion between promoter and upstream enhancers

  2. Insertion in a translated region

  3. Insertion in an intron

  4. Insertion in 5' untranslated region

  5. Insertion in promoter


Correct Option: C
Explanation:

Insertion in an intron altered splicing pattern/splicing failure. It usually results in protein truncation or the production of inactive mis-spliced products, although more complex effects are common.

In HIV-1, the U5 region has been characterized according to functional and structural differences into several sub-regions. Which among the following region plays a role both in dimerization and genome packaging?

  1. Psi

  2. DIS

  3. PBS

  4. TAR

  5. Poly A


Correct Option: E
Explanation:

Poly A plays a role both in dimerization and genome packaging since it is necessary for cleavage and polyadenilation. It has been reported that sequences upstream (U3 region) and downstream (U5 region) are needed in order to make the cleavage process efficient.

Which of the following DNA repeats encodes a RNA-binding protein of 500 amino acid lengths?

  1. SINEs

  2. UTR

  3. Second ORF

  4. First ORF

  5. LTRs


Correct Option: D
Explanation:

The first ORF encodes a RNA-binding protein of 500 amino acid lengths that weighs 40 kDA. This protein contains a leucine zipper motif and functions as a chaperone.

Obesity is considered to be the result of the combination of deletions, SNPs and gene mutations. Which among the following does not characterise monogenic obesity?

  1. It occurs due to the congenital leptin deficiency.

  2. The common monogenic obesity disorder was represented by excess of MC4R.

  3. The phenotype is directly and strongly related to the genotype.

  4. In leptin melanocortin pathway, leptin crosses the blood brain barrier and triggers the neurons present in the hypothalamus to generate peptides.

  5. The receptor gene mutations might be one of the reasons for severe obesity.


Correct Option: B
Explanation:

The mutation in the melanocortin-4 receptor protein (MC4R) which is a component of leptin-melanocortin pathway was detected to be related to obesity. The common monogenic obesity disorder was represented by MC4R deficiency. The obesity was accounted due to homozygous and heterozygous mutations in MC4R.

Which among the following is a large class of self-catalytic ribozymes?

  1. Group I introns

  2. Group II introns

  3. Twintrons

  4. LtrA

  5. Spliceosome


Correct Option: B
Explanation:

Group II introns is a large class of self-catalytic ribozymes as well as mobile genetic element found within the genes of all three domains of life. Ribozyme activity (e.g., Self-splicing) can occur under high-salt conditions in vitro.

In genetics, the process of gene conversion is regarded as the mechanism responsible for the separation of species. Which among the following statements does not characterise gene conversion?

  1. Conversion of one allele to the other is often due to base mismatch repair during hetrozygous recombination.

  2. Meiotic recombination is initiated through formation of a double-strand break.

  3. One of these 3’ single stranded DNA segments forms an intermediate.

  4. In Synthesis Dependent Strand Annealing (SDSA), there is information exchange but not physical exchange.

  5. Gene conversion may occur during recombinational repair involving a DHJ.


Correct Option: A
Explanation:

Conversion of one allele to the other is often due to base mismatch repair during homologous recombination: if one of the four chromatids during meiosis pairs up with another chromatid, as can occur because of sequence homology, DNA strand transfer can occur followed by mismatch repair. This can alter the sequence of one of the chromosomes, so that it is identical to the other.

A transposable element, TE is a DNA sequence that can change its position within the genome of an individual. Which among the following statements regarding the transposable element is incorrect?

  1. Mu phage transposition is the best known example of replicative transposition.

  2. A helitron is a TE found in prokaryotes.

  3. The most common form of transposable element in humans is the Alu sequence.

  4. Transposons in bacteria usually carry an additional gene for function.

  5. One family of TEs in the fruit fly Drosophila melanogaster are called P elements.


Correct Option: B
Explanation:

A helitron is a TE found in eukaryotes that are thought to replicate by a rolling-circle mechanism.

Which of the following snRNAs recognizes and binds to the sequence of the 5'-splice site of an intron in a strand of pre-mRNA?

  1. U1 spliceosomal RNA

  2. U2 spliceosomal RNA

  3. U4 spliceosomal RNA

  4. U5 spliceosomal RNA

  5. U6 spliceosomal RNA


Correct Option: A
Explanation:

U1 spliceosomal RNA is the small nuclear RNA (snRNA) component of U1 snRNP (small nuclear ribonucleoprotein). Splicing or the removal of introns, is a major aspect of post-transcriptional modification. The U1 snRNP recognizes and binds to the sequence of the 5'-splice site of an intron in a strand of pre-mRNA.  

Which among the following statements regarding the spliceosome is incorrect?

  1. Each spliceosome is composed of five small nuclear RNAs.

  2. The RNA component of the small nuclear ribonucleic protein or snRNP is rich in adenine.

  3. Introns typically have a GU nucleotide sequence at the 5' end splice site, and an AG at the 3' end splice site.

  4. A spliceosome is a large and complex molecular machine found primarily within the nucleus of eukaryotes.

  5. The spliceosome removes introns from a transcribed pre-mRNA.


Correct Option: B
Explanation:

The RNA component of the small nuclear ribonucleic protein or snRNP is rich in uridine (the nucleoside analog of the uracil nucleotide).

Which among the following modes of alternative splicing is the rarest mode in mammals?

  1. Mutually exclusive exons

  2. Intron retention

  3. Alternative acceptor site

  4. Exon skipping or cassette exon

  5. Alternative donor site


Correct Option: B
Explanation:

A sequence may be spliced out as an intron or simply retained. This is distinguished from exon skipping because the retained sequence is not flanked by introns. If the retained intron is in the coding region, the intron must encode amino acids in frame with the neighboring exons, or a stop codon or a shift in the reading frame will cause the protein to be non-functional. This is the rarest mode in mammals.

Which of the following events does not occur in alternative splicing during gene expression?

  1. The exons to be retained in the mRNA are determined during the splicing process.

  2. U3 is not involved in mRNA splicing.

  3. Each intron has GU at its 3' end.

  4. Splicing is regulated by trans-acting proteins.

  5. Splicing silencers are sites to which splicing repressor proteins bind.


Correct Option: C
Explanation:

The typical eukaryotic nuclear intron has consensus sequences defining important regions. cc Near the 3' end there is a branch site.

The major spliceosome splices introns containing GU at the 5' splice site and AG at the 3' splice site. At which site, the ATP gets hydrolyzed?

  1. A Complex

  2. C2 Complex

  3. C1 Complex-

  4. E Complex

  5. B2 Complex


Correct Option: A
Explanation:

Here, U2 binds to the branch site and ATP is hydrolyzed.

Which among the following statements regarding the synthesis of complementary DNA (cDNA) is incorrect?

  1. A eukaryotic cell transcribes the DNA into RNA.

  2. The mixture of mature mRNA strands is extracted from the cell.

  3. A poly-T oligonucleotide primer is hybridized onto the poly-A tail of the mature mRNA template.

  4. DNA polymerase is added, along with deoxynucleotide triphosphates (A, T, G, C).

  5. It is likely that the ssDNA forms a hairpin loop at the 3' end.


Correct Option: D
Explanation:

Reverse transcriptase is added, along with deoxynucleotide triphosphates (A, T, G, C). This synthesizes one complementary strand of DNA hybridized to the original mRNA strand.

The ribose moiety of which of the following nucleic acids is modified with an extra bridge connecting the 2' oxygen and 4' carbon?

  1. Xeno nucleic acid

  2. Glycol nucleic acid

  3. Threose nucleic acid

  4. A locked nucleic acid

  5. Synthetic peptide nucleic acid


Correct Option: D
Explanation:

A locked nucleic acid (LNA), often referred to as inaccessible RNA, is a modified RNA nucleotide. The ribose moiety of an LNA nucleotide is modified with an extra bridge connecting the 2' oxygen and 4' carbon.

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