A 60 years old man comes to your clinic presenting with stomach pain, sore muscles, fever, and dark urine. He has also poor appetite and nausea. Laboratory findings are the elevation of liver enzymes. Finally PCR results declared that he is suffering from HCV. There exist so many biological, genetic and environmental factors that he might be suffered from Hepatocellular Carcinoma (HCC). Research findings indicate that this transformation may be due to Single Nucleotide Polymorphism (SNPs) of any of the gene (like SNP in TGF-beta). By having the knowledge of molecular techniques writes the name and full form of that technique that can be used for the determination of SNP

A 60 years old man comes to your clinic presenting with stomach pain, sore muscles, fever, and dark urine. He has also poor appetite and nausea. Laboratory findings are the elevation of liver enzymes. Finally PCR results declared that he is suffering from HCV. There exist so many biological, genetic and environmental factors that he might be suffered from Hepatocellular Carcinoma (HCC). Research findings indicate that this transformation may be due to Single Nucleotide Polymorphism (SNPs) of any of the gene (like SNP in TGF-beta). By having the knowledge of molecular techniques writes the name and full form of that technique that can be used for the determination of SNP

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter15: Genomes And Genomics

Section: Chapter Questions

Problem 14QP

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Suppose a 10-year old patient has come to your office with a very rare disease. One so rare that only 100 people for the past 100 years have been diagnosed and nobody knows the gene or genes that are mutated in this disease. Describe the gene sequencing toold you would use to identify the mutated gene or genes in this hypothetical disease.
Although it is well known that X-rays cause mutations, they are routinely used to diagnose medical problems, including potential tumors, broken bones, and dental cavities. Why is this done? What precautions need to be taken?
One unexpected result of the sequencing of the human genome was the finding that mutations in a single gene can be responsible for multiple distinct disorders. For example, mutations in the RET gene can cause two different types of multiple endocrine neoplasias, familial medullary thyroid carcinoma, and Hirschsprung disease. How do you think mutations in a single gene can have such diverse effects?
A hereditary disease is inherited as an autosomal recessive trait. The wild-type allele of the disease gene produces a mature mRNA that is 1250 nucleotides (nt) long. Molecular analysis shows that the mature mRNA consists of four exons that measure 400 nt (exon 1), 320 nt (exon 2), 230 nt (exon 3), and 300 nt (exon 4). A mother and father with two healthy children and two children with the disease have northern blot analysis performed. The results of the northern blot for each family member are shown below. a) Identify the genotype of each family member, using the size of mRNAs to indicate each allele. (For example, a person who is homozygous wild type is 1250/1250). b) Based on your analysis, what is the most likely molecular abnormality causing the disease allele?
All EXCEPT which of the following statements are evidence that DNA, and not protein, is the genetic material in eukaryotes as well as bacteria? Group of answer choices DNA is located in the cell where the primary genetic function is known to occur. Introduction of a human DNA coding for insulin into bacteria results in bacterial cells that can produce human insulin All of these are evidence that DNA is the hereditary material in eukaryotes. Mice that are transgenic for DNA coding for rat growth hormone grow to be twice normal mouse size. UV light is most mutagenic at a wavelength at which DNA and RNA strongly absorb.
The first publications describing the successful production and intracellular replication of recombinant DNA appeared in the early 1970’s. Since then, there is a long list of breakthroughs achieved by recombinant DNA technology. But which one of the following are NOT on that list? Select more than one answer ifneeded. a) Recombinant Factor VIII protein for the treatment of hemophiliacs b) Positional cloning of over 100 human disease genes c) Bacteria producing human insulin for the treatment of diabetic patients d) Reproductive cloning of over a dozen humans
Fill the Table with mutagenic agents and provide their type (physical, chemical, biological) and their classification based on their effect (teratogenic, carcinogenic, clastogenic, or non-specific), together with their modes of action. Mutagen Type of Mutagen Classification based on effect Action UV – radiation X-Ray radiation Virus Heat 5-bromouracil Ethidium bromide 2-aminopurine Acridine orange Proflavine Cobalt Nickel Methylhydrazine Temozolomide Ethyl ethane sulfate
Which of the following statements about inherited DNA repair syndromes are correct (select all that apply)? A. There are no known genetic defects in Homologous Recombination Repair pathways in humnas B. Mutant BRCA 1 or 2 alleles are the most common genetic defect found in colon cancers C. Individuals with genetic defects in Nucleotide Excision Repair are more sensitive to UV light-induced cancers D. The increased skin cancer risk syndrome xeroderma pigmentosum is due to defects in Nucleotide Excision Repair enzymes E. Hereditary Non-Polyposis Colon Cancer is associated with defects in Mismatch Repair enzymes
Xeroderma pigmentosum is a genetic disease caused by an error in the nucleotide excision repair process that fixes damage to DNA by ultraviolet light. Studies have shown that it can result from mutations in any one of seven genes. What can you infer from this finding? A) There are seven genes that produce the same protein B) These seven genes are the most easily damaged by ultraviolet light. C) There are seven enzymes involved in the nucleotide excision repair process. D) These mutations have resulted from translocation of gene segments.
Which of the following types of physical mutagens produces thymine dimmer mutations? A- gamma rays B- X-rays C- ionizing radiation D- ultraviolet light E- microwave
A student mixes some heat-killed type IIS Streptococcus pneumoniae bacteria with live type IIR bacteria and injects the mixture into a mouse. The mouse develops pneumonia and dies. The student recovers some type IIS bacteria from the dead mouse. If this is the only experiment conducted by the student, has the student demonstrated that transformation has taken place? What other explanations might explain the presence of the type IIS bacteria in the dead mouse?
One experiment that showed the DNA carried genetic information was the "Transformation" experiment by Avery, McCarty, and MacLeod where they injected mice with non-pathogenetic bacteria that had been incubated in the remains of pathogenic bacteria. What did they find when they incubated non-pathogenic bacteria in just the protein from the pathogenic bacteria? In this case there was no transformation They found that the non-pathogenic bacteria were transformed into pathogenic bacteria In this case the mice were sickened but did not die They found that some of the protein could cause transformation but other proteins could not