You sequence the TBX1 gene from patients to diagnose if they have DiGeorge syndrome, and you find the mutations listed below. Do you conclude this patient has DiGeorge syndrome? Briefly explain why

Q: Explain why a point mutation does not necessarily change the oriignal amino acid sequence.  Explain…

A: A mutation refers to the alteration in the sequence of nucleotides in an organism’s DNA…

Q: With this gene provided: MuPKS c.1949 C>T (p.R644W) Please provide the following; 1. Name of the…

A: The DNA is formed of two nucleotide chains joined through a hydrogen bond formed between the…

Q: Why is deleting one nucleotide generally more detrimental than deleting three?

A: Nucleotides are monomeric units of nucleic acids.They are phosphate esters of nucleosides and made…

Q: 1. a)What would happen if the aminoacyl tRNA synthetase responsible for charging alanine tRNAs also…

A: The polymerization of amino acids according to the codons on mRNA to form proteins is known as…

Q: Indicate 2 differences between SSLP (simple sequence length polymorphism) and SNP (single nucleotide…

A: SSLPs are called Simple Sequence Length Polymorphism. These are arrays of repeat sequences that…

Q: 7a. Given the following mutated sequence (with respect to the normal sequence), what TYPE of…

A: DNA is the genetic material present in most of the living organisms. The DNA is made up of 4…

Q: The amino acids in a normal polypeptide chain are proline, arginine, aspartic acid, lysine, and…

A: The DNA sequence of a gene is altered to generate a different result, which is known as a genetic…

Q: Which of the following point mutations would properly be defined as a transition mutation?  the…

A: The substitution mutations of DNA are of two types: Transitions and Transversions. Transitions are…

Q: B. Using the DNA sequence above, write a new DNA sequence from 3’ to 5’ that incorporates a…

A: A silent mutation is a type of mutation that occurs in DNA where a single nucleotide is changed, but…

Q: 8a. Given the following mutated sequence (with respect to the normal sequence), what TYPE of…

A: Mutation can be defined as change in nucleotide sequence of a gene. Based on the type of change,…

Q: Mutations can be classified as small-scale or large-scale, depending on the number of nucleotides…

A: a) change from CCGATG to CCGGATGThe sequence is altered from CCGATG to CCGGATG by the insertion of…

Q: Define a Point mutation and give an example. What is sickle cell anemia and what causes it. What…

A: Mutation refers to the phenomena in which the structure of a gene or DNA sequence changes, resulting…

Q: В C as1 wild type as1 mutant as1 superimposed A

A: Alpha-helices and beta-sheets are called the secondary structures of the protein. Secondary…

Q: define the term name as Missense mutations

A: sometimes a wrong nucleotide will be incorporated in the DNA. that can result in a type of mutation…

Q: explain Instability of TE insertion mutations

A: Transposable elements (TEs) are deoxyribonucleic acid (DNA) sequences that move from one location to…

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: Cystic fibrosis (CF) is an inherited disorder caused by different types of mutations, many of which…

A: CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator…

Q: The genetic alteration responsible for sickle-cell anemia in humans involves: a transition mutation…

A: sickle cell anaemia is caused by inherited abnormal hemoglobin that causes the sickling of red blood…

Q: Which of the following would be most likely to be a conservative or mild mutation? Histidine (His)…

A: Also known as conservative replacement or conservative substitution as it involves amino acid…

Q: 3). Explain a substitution mutation 4) Explain a deletion mutation 5). Explain an insertion…

A: 3. Substitution mutation: change of a single base causes change of the amino acid.

Q: Faulty DNA repair; ii) Gain-of-function; and iii) Trinucleotide repeats  provide genetics disorders…

A: Asked : Example of mutation are asked with disorder for given condition.

Q: What is the minimal number of insertions/deletions of nucleotides that would result in a frameshift…

A: A mutation happens when a DNA (deoxyribonucleic acid) gene is broken or modified causing the change…

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.