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

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: 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: 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: 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: 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: 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: Define common variants

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

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…

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.