WHIM syndrome is a disease of the immunesystem resulting in warts and frequent infections.The disease is caused by a dominant gain-of-functionmutation in a gene on chromosome 2 called CXCR4.A 38-year-old woman suffering with WHIM syndrome her entire life was suddenly and mysteriouslycured. Genome analysis of her blood precursor cells(stem cells) revealed that many of these cells had achromosome 2 that had undergone chromotripsis—arare (and poorly understood) process where a chromosome is “shattered” into small pieces that are subsequently stitched back together in random order, resultingin many deletions and inversions. Explain howchromotripsis of chromosome 2 in a blood stem cellcould have cured the woman of WHIM syndrome.

Q: A family that exhibits Fragile X syndrome is shown in the pedigree. In the pedigree, squares…

A: Introduction: Fragile X syndrome has triplet repeats at the fragile site. It involves learning…

Q: A defective gene on chromosome 15 causes Tay-Sachs disease. It is a central nervous system…

A: Given: A pedigree. A defective gene on chromosome 15 causes Tay-Sachs disease. Individual III - 1 -…

Q: rms of the cell cycle, what would happen if there was a defect in the Rb prote made it unable to…

A: Rb protein is a tumor suppressor protein that is it suppresses the tumor from growing. Hence Rb…

Q: Part 3C: Below is data from a pedigree trace of patients affected with mouse model of pancreatic…

A: Answer  The mode of inheritance shown in the above pedigree is of autosomal recessive

Q: In a few sentences, describe how p53 guards the genome. Include at least two specific ways that p53…

A: The TP53 ( Tumor protein 53) also known as P53. This gene codes for cell cycle regulatory proteins…

Q: what category of cancer-related genes is it possible to find inherited variants that are associated…

A: Answer is option 3.

Q: ARVCS is a disorder characterized by the replacement of healthy heart tissue with fatty fibrous…

A: Mutation is any change in the nucleotide sequence of the gene. It may lead to disorders if it makes…

Q: Standard 2b A male individual who is XYSRY has the following genotype for the AMH gene on chromosome…

A: Humans have 23 pairs of chromosomes of which 22 pairs are autosomal and the 23rd pair is…

Q: Most forms of cancer are caused by environmental agents that produce mutations in somatic cells. Is…

A: Environmental factors have been known to trigger a lot of the mutations which develop into cancerous…

Q: ile she does not have the condition she has a other who has the condition. Hemophilia is due a…

A: Hemophilia being an x linked recessive disease is a disease in which X chromosome is mutated. As…

Q: What is the importance of determining the patient's onset of menses and the number of pregnancies?

A: MM is 54 year old female.  She is diagnosed with  intraductal adenocarcinoma of the left breast 5…

Q: How many of the mutations listed below would lead to excessive cell growth when the cell was either…

A: Excessive growth occurs when a cell continuously divides and when there is no cell cycle arrest. Myc…

Q: The dominant condition elliptocytosis causes red blood cells to become misshapen into oval-shaped…

A: answer given below

Q: Supergenes” are groups of genes located together inside chromosomal       inversion.  Supergenes…

A: Chromosomal inversion is a type of polymorphism that is common in animals, plants and humans.…

Q: Go to the NCBI’s website at https://ncbi.nlm.nih.gov On the database dropdown menu, select “Gene”…

A: The RB1 gene (Retinoblastoma 1) is a tumor suppressor gene that is located on chromosome 13. The…

Q: Which of the following statements about inherited DNA repair syndromes are correct (select all that…

A: DNA repair deficiency disorder:  Generally when DNA undergoes any sort of DNA damage these damages…

Q: Bloom Syndrome Bloom syndrome is a rare genetic disorder. It is characterized by a short stature…

A: Bloom syndrome is effected by mutations in the BLM gene. Individuals with Bloom syndrome may evolve…

Q: An STR on chromosome 5 is very closely linked to a gene involved in a dominant metabolism disorder…

A: Gel electrophoresis is a technique that is used to separate DNA, RNA or proteins based on their…

Q: The homologous chromosome pairs in our cells do not carry identical sequences in all loci. This…

A: Proto-oncogenes are normal genes which affect normal cell growth and proliferation, but which have…

Q: The beach mouse (Peromyscus polionotus) is a small rodent found in the southeastern United States.…

A: Introduction  An organism's genotype is made up of all of its genetic components. The alleles or…

Q: The P63 and P53 have similar functionalities in the cell, however, p53 is rarely associated directly…

A: Tumor protein 63 (p63) could also be a transcription factor of the p53 gene family encoded by the…

Q: The beach mouse (Peromyscus polionotus) is a small rodent found in the southeastern United States.…

A: The average number of offspring per parent of a specific kind can be used to calculate absolute…

Q: Any permanent change to the structure of DNA is considered a mutation. A somatic cell mutation…

A: Ans. 1 Heritable mutation: A change in the genetic material that is incorporated into every cell…

Q: A person with cancer walks into the classroom.  As a biology class, we ask if we can examine some of…

A: Aneuploidy is the condition in which abnormal number of chromosomes are seen in the cell.Normally…

Q: Hyper-IgE syndrome, also known as Job’s syndrome, is an immunodeficiency disease resulting from the…

A: Job's Syndrome

Genomic studies

Genomic studies (genomics) is the study of the whole genome of an organism. Using bioinformatics and high-performance computing, genomic researchers examined massive amounts of deoxyribonucleic acid (DNA)-sequence data to discover variations or mutations that affect drug response, health, or disease. Genomics is a much younger discipline than genetics, having only emerged in the last few decades as a result of technological advancements in DNA sequencing and computational biology.