Principle of Inheritance and variations 2009 questions

Question
Haemophilia is a sex-linked recessive disorder of humans. The pedigree chart given below shows the inheritance of haemophilia in ones family. Study the pattern of inheritance and answer the question given.

(a) Give all the possible genotypes of the members 4, 5 and 6 in the pedigree chart. (b) A blood test shows that the individual 14 is a carrier of haemophilia. The member numbered 15 has recently married the member numbered 14. What is the probability that their first child will be a haemophilic male?

Solution:
(a) 4 Carrier female with genotype X*X 5 Affected male with genotype X*Y 6 Normal male with genotype XY Here, X* represents the trait for haemophilia. (b) There is a 25% probability that their first child will be a haemophilic male.

2010 questions
Question Why are F2 phenotypic and genotypic ratios same in a cross between red-flowered snapdragon and white-flowered snapdragon plants. Explain with the help of a cross. Solution: A cross between red-flowered Snapdragon and white-flowered Snapdragon plants is shown below:

In a normal Mendelian cross, Rr would have corresponded to the red coloured flower only, because in the Mendelian inheritance pattern, only dominant allele is expressed in the phenotype. However,Snapdragon shows incomplete dominance in which Rr, instead of expressing dominant phenotype, in fact expresses a mixture of dominant (red) and recessive (white) traits that leads to the pink colour for Rr. Hence, the phenotypic ratio modifies to 1:2:1. Thus, both phenotypic and genotypic ratios are same for a Snapdragon flower. Question During his studies on genes in Drosophila that were sex-linked T.H. Morgan found F2 population phenotypic ratios deviated from expected 9:3:3:1. Explain the conclusion he arrived at. Solution: The phenotypic ratios deviated from expected Mendelian ratio in case of Drosophila because the two genes representing a single character did not segregate independently. Morgan explained that the deviation from Mendelian ratio was because of linkage. Linkage is defined as the coexistence of two or more genes in the same chromosome that inherited together. If the genes are situated on the same chromosome and lie close to each other, then they are inherited together and are said to be linked genes. He also observed that some genes were more tightly linked than the others. He concluded that the occurrence of recombinants was further restricted in the case of the more tightly linked genes.

Question Write the symptoms of haemophilia and sickle-cell anaemia in humans. Explain how the inheritance pattern of the two diseases differ from each other. Solution: Haemophilia is a sex-linked recessive disease that shows its transmission from unaffected carrier female to some of male progeny. The symptom of a haemophiliac patient includes non-stop bleeding even on a simple cut. Sickle-cell anaemia is an autosome-linked recessive trait exhibiting change in shape of the red blood cells from biconcave disk to sickle shape under low oxygen tension. It is characterised by low haemoglobin count and other symptoms of anaemia such as fatigue and irritability, etc. The pattern of inheritance of haemophilia involves the passing on of haemophilia from the heterozygous female (carrier) to her sons. However in sickle-cell anaemia, the disease is controlled by a single pair of allele, HbA and HbS. Only homozygous individuals for haemophilia (HbS HbS) show the diseased phenotype. However, heterozygous (HbA HbS) individuals appear apparently unaffected; they are the carriers of the disease.

Molecular basis of Inheritance 2009 Questions

Question
Why hnRNA is required to undergo splicing?

Solution:
The heterogeneous nuclear RNA (hnRNA) is required to undergo splicing because the primary transcript contains both exons and introns. Introns are non-functional; hence, they are removed by splicing.

Question
Explain the contribution of Thermus aquaticus in the amplification of a gene of interest.

Solution:
A thermostable DNA polymerase enzyme called Taq polymerase is obtained from the bacterium Thermus aquaticus. It remains active even during the high-temperature-induced denaturation of the double-stranded DNA which is a part of the PCR reaction involved in the amplification of the gene of interest.

Question
How is the translation of mRNA terminated? Explain.

Solution:
The mRNA is translated into a complete polypeptide by the ribosome as it proceeds through the mRNA sequence. Amino acids linked to the complementary tRNA anticodon are added one by one along the sequence. At the end, when the stop codon is encountered, a release factor binds to it, which then terminates translation and enables the release of a complete polypeptide chain from the ribosome.

Question
Study the figure given below and answer the questions:

(a) How does the repressor molecule get inactivated? (b) When does the transcription of lac mRNA stop? (c) Name the enzyme transcribed by the gene Z.

Solution:

(a) The repressor gets inactivated by the binding of the inducer. In the case of lac operon, molecules such as lactose and allolactose act as the inducer. (b) In the absence of the inducer, when the repressor protein synthesised by the gene Ibinds to the operator region, the transcription of lac mRNA stops. (c) The gene Z codes for the enzyme -galactosidase.

Question
Draw a labelled schematic sketch of replication fork of DNA. Explain the role of the enzymes involved in DNA replication.

Solution:

Enzymes involved in DNA replication: The main enzyme involved in DNA replication is the DNA-dependent DNA polymerase. This enzyme catalyses the polymerisation of deoxynucleotides along the 5 3 direction, and hence, replication is continuous along the 3 5 strand, and discontinuous along the template, i.e., the 5 3 direction. This discontinuous strand is joined by another enzyme called DNA ligase.

Question
(a) Explain the experiment performed by Griffith on Streptococcus pneumoniae. What did he conclude from this experiment? (b) Name the three scientists who followed up Griffiths experiments. (c) What did they conclude and how?

Solution:
(a)

In 1928, Fredrick Griffith performed some experiments on Streptococcus pneumoniae. When the bacteria were grown on culture medium, some produced smooth shiny colonies (S), while

y y y y

the others produced rough colonies (R). This is because the S strain contained a polysaccharide mucus coat, while the R strain lacked it. Mice infected with the S strain died of pneumonia, while those infected with the R strain survived. Griffith then heat-killed the S strain bacteria and injected them into mice. He noticed that the mice did not develop pneumonia. He then mixed the heat-killed S strain with the live R strain and injected it into mice. The mice died as a result. He was also able to recover live S strain bacteria from the dead mice. He then concluded that some transforming principle was transferred from the heat-killed S strain to the R strain, which enabled the synthesis of the polysaccharide coat in the R strain, thereby rendering it virulent.

(b) Avery, MacLeod and McCarty were the three scientists who followed up Griffiths experiment. (c) They purified proteins, DNA and RNA from the heat-killed S strain, and transferred them to the live R strain cells to see which biomolecule had the capacity to render the R strain virulent. From their experiments, they concluded that only the DNA of the S strain had the capacity to transform the R strain. They also noticed that proteases and RNAses did not affect the transformation of the R strain, and hence, concluded that the transforming principle was neither RNA nor protein. They suggested that DNA caused transformation and could be the genetic material.

2010 questions

Question Mention two functions of the codon AUG. Solution: Two functions of codon AUG are:
y y

It is the start-codon. It marks the beginning of translation. It codes for the amino acid methionine.

Question Describe the termination process of transcription in bacteria. Solution: Termination of transcription starts when the termination region is recognised. It is a particular sequence of nucleotide where the translation stops. In bacteria, as soon as the polymerase enzyme encounters the terminator region, the nascent RNA so formed falls off. The polymerase enzyme associates transiently with termination factor ( ) to terminate the transcription. Actually, the association with termination factor alters the specificity of RNA polymerase. In bacteria, the mRNA does not require any post transcriptional processing. Also, transcription and translation take place simultaneously in the same region of the cell (i.e., translation begins before the mRNA is fully synthesised) in them.

Question How does RNA interference help in developing resistance in tobacco plant against nematode infection? Solution: RNA interference or RNAi is a method adopted to prevent infestation of roots of tobacco plants by a nematode Meloidogyne incognita. In this method, a complementary RNA binds to mRNA to form a ds RNA, which cannot translate. Hence, its expression is blocked. It is also known as gene silencing. This complementary mRNA may come from either an infection by RNA viruses or through transposons (mobile genetic elements). These genes can be incorporated into the tobacco plant through vectors. The introduced DNA forms both sense and anti-sense RNA. Two strands being complementary to each other bend and form ds RNA, leading to RNAi. Thus, the mRNA of nematode is silenced and the parasite cannot survive in the transgenic tobacco plant.