Human Genetics Midterm, Page 3 of 5 53. If you needed to get a cell sample from

Question

Human Genetics Midterm, Page 3 of 5 53. If you needed to get a cell sample from a fetus for karyotyping, what are two ways that you might obtain the cells? (2 pts) 54. The substitution of a G for an A in the protein coding sequence of BRCA1 gene introduced a SNP. This SNP changed the amino acid incorporated into the BRCA1 protein, resulting in the disease symptoms of breast cancer. Unaffected individuals have the DNA sequence AAGCTT, a Hind III restriction enzyme cut site, in the BRCAl gene. The G substitution (AGGCTT) eliminates this restriction enzyme site. A. Explain how you would use this information to design a screening test for breast cancer. Write out all of the major steps to do this genetic test, starting with getting a sample of cells from the patient (tell me where you would get the cells). Be specific in using information given in the paragraph above when telling me about your plan (7 pts) HINT: USE YOUR MODULE 3 LAB TO HELP YOU Step 1: Obtain cells from patient from their Step 2: Step 3: Step 4: Step 5: 55. How can SNPs cause a disease? Describe where the SNPs most likely are in the genome that are the ones that cause disease. (3 sentences max) (3 pts)

Explanation / Answer

53.For karyotyping cells are obtained from two ways 1.Amniocentesis-It is a test to look at the fluid that surrounds the baby 2.Chorionic Villus Sampling-Chorionic Villi are tiny finger-shaped growth found in the placenta.

55.SNP's(single nucleotide polymorphism) are found within a gene or in a regulatory region near a gene,they play direct role in disease causing by affecting the gene's function.

There disturbance is not homogenous in a Genome.They are found more in a non-coding region more than the coding regions.They are found more near AT microsatellite.

60. YELLOW-1.Tumour suppressor 2. p53 3. proto-oncogenes 4.Mye 5.gain of function 6.oncogene 7.cyclins 8.dominant

PURPLE- Single transduction 2.Loss of function 3.BRCA1 4.Apoptosis 5.Ras 6.recessive

BONUS 1.Werner syndrome is caused by mutations in the WRN gene.There are more than 20 mutations occure which cause it.They result in abnormally shortened Werner protein.The shortened protein broke down too quickly which cause the loss of Werner protein in the cell.Without normal Werner protein in the nucleus, cells cannot perform the tasks of DNA like replication,transcription & repairing

2.The 2 scientists are Rosalind Franklin and Maurice Wilkins.They both discovered the The x-ray diffraction images are produced by them.They studied DNA using X-rays.Rosalind produced an x-ray photograph that allowed two other researchers, James Watson and Francis Crick to work out the 3D structure of DNA.

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