Which form of Retinoblastoma typically results in unilateral disease and exhibits 2-hit mutational kinetics?

Q: What causes the majority of the mutations found in human melanomas and lung cancer?

A: DNA is the chemical in each cells that makes up the genes and some genes control when cells grow,…

Q: An experiment was performed in mice.  Wild-type bone marrow is used to reconstitute lethally…

A: The immune system is the body’s defense mechanism against infections and invading pathogens and is…

Q: What type of DNA changes are revealed from p.Gln39X mutation. Is it pathogenic?

A: Introduction: Mutations are the change in the nucleotide sequence of DNA. It may occur in somatic…

Q: Draw the SMN2 pre-mRNA (SMN2 has 10 exons and 9 introns), indicate the 5’ and 3’ SS location. [2pts]

A: Spinal muscular atrophy (SMA), which results from the deficiency of articulation of the endurance of…

Q: The development of colon cancer is particularly well- studied, and often has a predictable order of…

A: Colorectal cancer (CRC) is the 1/3 most frequent cancer in men and the 2nd most frequent cancer in…

Q: What mutations are possible in gene ZFPM2?

A: ZFPM 2 is a multi zinc finger protein. It helps in transcription regulation of certain genes by…

Q: discuss the Role of telomere in disease  Provide detailed examples

A: Telomerase is an ribonucloprotein molecules responsible for end replication of leading strand of…

Q: Explain what is c-myc translocation and why it results in overexpression of c-myc. What is the role…

A: Epstein-Barr virus or EBV is one of the most common viruses found in the human body. They pass from…

Q: Explain the a gain-of-function mutation ?

A: Mutations occur when there is a change in DNA due to damage which can alter the gene expression.…

Q: Mention the causative agents of DNA lesions in the human body that can lead to cancer.

A: The causative agents are environmental agents that alter the structure of DNA and lead to harmful…

Q: I read that vinyl chloride exposure is associated with an increased risk of a rare form of liver…

A: Cancer is the condition of uncontrolled cell division.

Q: Is Alzheimer’s disease always linked to a mutation in a single gene? Provide evidence that supports…

A: Alzheimer's disease is a degenerative  disease characterized by for formation and deposition of…

Q: 20. In class, we discussed different types of genetic change that can cause a normal gene (proto…

A: There are two common causes of most cancers involves mutations in genes called proto-oncogenes and…

Q: methyltransferase (TPMT) levels is correct? 27. In the context of 6-mercaptopurine (6-MP) therapy…

A: 6-Mercaptopurine (6-MP) is an important drug used in the treatment of leukemia and other conditions.…

Q: What percentage of cells in an organ or a tissue need toexpress a therapeutic gene to alleviate the…

A: Gene therapy is the method that involves the insertion of DNA or sequence of DNA in the cells of the…

Q: The phenotype of a heterozygous mouse (Aa) is agouti.  The agouti banding pattern is due to altered…

A: * Homozygous dominant and Heterozygous will produce agouti that is AA or Aa respectively  and the…

Q: What are some limitations in the use of ASOs for exon-skipping therapies in Duchenne muscular…

A: Duchenne Muscular Dystrophy (DMD) is a muscular disease caused by mutations in the dystrophin gene…

Q: The p53 protein was discovered through its association with SV40 T antigen and assumed initially to…

A: In the p53 gene, mutations (changes) can cause cancer cells to grow and spread in the body. In a…

Q: Most inherited forms of cancer involve _______________ and these individuals are for the mutation.…

A: Firstly we can examine what each of the terms given represents. 1. Tumor suppressor gene: It is a…

Q: The DNA located inside of mitochondria exhibits approximately ten times the mutation rate seen in…

A: Mitochondria is a double membrane-bound cell organelle that is used to generate ATP molecules…

Q: hat is the nature and likely location(s) of a mutant that would, 1)allow constitutive expression of…

A: The lac operon is an operon or group of genes with a single promoter (transcribed as a single mRNA).…

Q: Which kind of therapy was given in 1990 to a four year old girl with adenosine deaminase (ADA)…

A: Answer: Introduction: ADA deficiency i.e. Adenosine deaminase deficiency is also called as severe…

Q: 32. A 23-year-old man comes to the physician because of a 1-month history of weakness and muscle…

A: Myoclonic epilepsy with ragged red fibers or MERRF syndrome is an inherited disease condition that…

Q: How do loss of function mutations associated with Artemis (protein) cause their resulting…

A: Introduction: -Artemis is a protein that in humans is encoded by the DCLRE1c gene.  Function: -…

Q: Explain about several clinical stages that arecharacterized by the stepwise accumulation of genetic…

A: Genetic defects are changes in the DNA that can be passed down from generation to generation. These…

Q: Individuals with the hereditary disorder ataxia telangiectasia suffer from neurodegeneration,…

A: Ataxia-telangiectasia is a genetic disorder caused by a point mutation in the ATM gene.

Q: What type of mutation is sickle cell anemia? Explain the molecular basis of sickle cell anemia.

A: Sickle cell anemia is an abnormal condition that arises due to the mutation in the beta-globin chain…

Q: Why don’t all loss-of-function mutations that are recessive at the cellular level behave as…

A: Loss of function mutation refers to the mutation in a gene that leads to reduced or no function of…

Q: position 480 to arginine (G480R) in the FGFR protein. Normally, FGFR is active when FGF binds to it…

A: Achondroplasia is an inherited autosomal dominant disease.  This occurs due to a gene mutation that…

Q: Define common variants

A: A common variant is a part of a hypothesis "Common diseases-common variant" that accounts for the…

Q: What are the effects of mutations in the BRCA1 or BRCA2 gene on DNA damage repair, and explain the…

A: BRCA1 & BRCA2 are genes that play a crucial role in repairing damaged DNA in our cells. One of…

Q: Some people have a genetic predisposition for developing priondiseases. Examples are described in…

A: Viruses are acellular organisms that lack a typical cellular structure like a bacterium. It is a…

Q: Why do Tbx5 mutations affect limbs and heart but no other tissues?

A: Introduction Mutation can be defined as the change in the DNA sequence or a structural change in the…

Q: What is the relationship between the rpoS gene and the SOS repair mechanism? Briefly explain.

A: In response to the severe DNA damage; many cells have the mechanism which enable them to synthesize…

Mitochondrial Mutations

A mitochondrion is a cellular organelle that serves as the site for cellular respiration and energy production (ATP or Adenosine Triphosphate). It is a double-membrane-bound organelle and is only present in eukaryotic cells.