Bloom Syndrome Bloom syndrome is a rare genetic disorder. It is characterized by a short stature and a long narrow face with prominent nose and ears. There is also an increased sensitivity to light. People who have the disorder often develop rashes on their face, forearms, and hands when they have been exposed to the sun. In addition, these people often suffer from chronic obstructive pulmonary disorder (COPD) and have a higher chance of developing cancer. The cause of this genetic disorder is a mutation in the BLM gene located on chromosome 15. The immediate effect of this mutation is that there is a defect in the functioning of the DNA helicase enzyme. The location of this gene on the chromosome is indicated above (yellow arrow). What is the effect of this mutation on DNA replication?  What stage of the cell cycle would be most affected?

Acquired mutation in the p53 gene is the most common genetic alteration found in human cancer (> 50% of all cancers). A germline mutation in p53 is the causative lesion of Li- Fraumeni familial cancer syndrome. In many tumors, one p53 allele on chromosome 17p is deleted and the other is mutated. What type of protein is encoded by the p53 gene? (A) Caspase (B) DNA repair enzyme (C) Membrane cell adhesion molecule (D) Serine phosphatase (E) Telomerase (F) Transcription factor (G) Tyrosine kinase

The genetic alteration responsible for sickle-cell anemia in humans involves: a transition mutation from A to G, substituting glutamic acid for valine in a-globin a transversion mutation from T to A, substituting valine for glutamic acid in b-globin a transition mutation from T to C, substituting valine for glutamic acid in b-globin a transversion mutation from G to C, substituting glutamic acid for valine in a-globin a frameshift mutation of one ATC codon, removing glutamic acid from b-globin

Pinpointing a disease gene requires a combination of approaches. Mutations in the XIAP gene are known to cause a serious condition called X-linked lymphoproliferative disease (XLPD).   In the case  of XLPD, in which the blood contains too many lymphocytes (white blood cells of the immune system), crowding out the oxygen-carrying red blood cells and damaging the liver.  When compairing the XIAP amino acid sequence of one affected patient to other human and animal standard RefSeq, the patient has an amino acid substitution at position 203, from cystenine (C) to tyrosing (Y).  This evolutionary conservation suggests  Group of answer choices that the standard RefSeq does not provide enough information to determine a possible cause of  XIAP function. mutations in the XIAP gene and XLPD are not associated.   that the mutation in the affected patient has no impact on XIAP function. that the mutation in the affected patient might alter XIAP function.

1).   In the absence of this enzyme, a substance called ceroid lipofuscin accumulates in lysosomes in the brain, resulting in seizures, blindness, decline in cognitive function and motor skills, dementia, and death by the late teens or early 20’s. The TPP1 gene is 6695 bp in length. Think about the characteristics of Batten disease, and then suggest an approach to gene therapy that might be effective for this specific genetic disorder.  You may assume that your research team is working in the U.S. and your research is funded by a grant from the National Institutes of Health (NIH).  Other scientists have suggested that it might be possible to use CRISPR to treat this genetic disorder in affected individuals.      (i) First, what is CRISPR? (BRIEFLY describe what it is and how it works).      (ii) Briefly describe how CRISPR could be utilized in treating genetic conditions such as Batten disease.

Retinitis pigmentosa refers to a group of conditions that cause night blindness and loss of peripheral vision before age 20. A form of X-linked retinitis pigmentosa is caused by a frameshift mutation that deletes 199 amino acids. How can a simple mutation have such a great effect?

Give only typing answer with explanation and conclusion A healthy asymptomatic 27 year old female, Susan, presents to your clinic with known family history of Spastic Paraplegia 4 caused by pathogenic SPAST mutation identified in her mother. She wants to know the risk that she will develop symptoms eventually based on this information. the penetrance of SPAST mutation is approximately 85% for women and 96% for men.

Please help, doesn't it usually start before the promoter or after, please just give me a brief explanation

A genetic counsellor is working with a couple who have just had a child who has a debilitating autosomal recessive form of a disease termed epidemolysis bullosa (which causes severe external and internal skin fragility resulting in blistering etc). Neither parent has epidemolysis bullosa, nor does anyone in their families. What should the counsellor say to this couple? OA. "Because no one in either of your families has epidemolysis bullosa, you are not likely to have another baby with epidemolysis bullosa. You can safely have another child." OB. "Because you have had one child with epidemolysis bullosa, you must each carry the allele. Any child you have has a 50% chance of having the disease." OC. "Because you have had one child with epidemolysis bullosa, you must each carry the allele. Any child you have has a 25% chance of having the disease." OD. "Because you have had one child with epidemolysis bullosa, you must both carry the allele. However, since the chance of having an affected…

Susceptibility to developing prion diseases arises from a mutation that changes aspartic acid (Asp) to asparagine (Asn). Which nucleotide base changes could make this happen?