Which of the following statements regarding loss of function and gain of function mutations is true? A. If both gain of function and loss of function approaches show the consistent results it is the most convincing evidence to demonstrate the function of gene B. Gain of function mute tapes are the most of case recessive C. Gain of function approach is more convincing than loss of function approach D. Over expression of a gene cannot be considered as gain of function

Which of the following statements regarding loss of function and gain of function mutations is true? A. If both gain of function and loss of function approaches show the consistent results it is the most convincing evidence to demonstrate the function of gene B. Gain of function mute tapes are the most of case recessive C. Gain of function approach is more convincing than loss of function approach D. Over expression of a gene cannot be considered as gain of function

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Description: Which of the following statements regarding loss of function and gain of function mutations is true? A. If both gain of function and loss of function approaches show the consistent results it is the most convincing evidence to demonstrate the functi

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter5: The Inheritance Of Complex Traits

Section: Chapter Questions

Problem 8QP: Clubfoot is a common congenital birth defect. This defect is caused by a number of genes but appears...

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The term epistasis is used to refer to a situation in which the expression of a gene is influenced by another independently inherited gene. In labs, the gene B determines how much pigment is made. The dominant allele B results in black fur and the recessive allele b results in brown (chocolate) fur. A separate gene, E, codes for a protein that determines whether the pigment is deposited in the hair. (E = pigment deposited; e = pigment not deposited). What genotypes are possible for a black lab? What genotypes are possible for a chocolate lab? What genotypes are possible for a yellow Lab? In a cross between a black lab that is homozygous for both alleles and a yellow lab that is homozygous for both alleles, what would the genotype and phenotype of the offspring be? Imagine you cross two heterozygous parents. What are the genotypic and phenotypic ratios of the offspring?
Clubfoot is a common congenital birth defect. This defect is caused by a number of genes but appears to be phenotypically distributed in a noncontinuous fashion. Geneticists use the threshold model to explain the occurrence of this defect. Explain this model. Explain predisposition to the defect in an individual who has a genotypic liability above the threshold versus an individual who has a liability below the threshold.
A disease "D" is caused by a combination of genetic and environmental factors. Polymorphisms in multiple genes can make an individual susceptible to this disease. Can gene therapy be a feasible therapeutic option to treat "D"? Why or why not?
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?
Which of the examples of genetic testing below are prognostic tests? Which are diagnostic? (a) Individual sequencing (personal genomics) identifies a mutation associated with Alzheimer’s disease. (b) ASO testing determines that an individual is a carrier for the mutant b@globin allele (bS) found in sickle-cell anemia. (c) DNA sequencing of a breast tumor reveals mutations in the BRCA1 gene. (d) Genetic testing in a healthy teenager identifies an SNP correlated with autism. (e) An adult diagnosed with Asperger syndrome (AS) has a genetic test that reveals a SNP in the GABRB3 gene that is significantly more common in people with AS than the general population.
Which of the following statements describes an example of a phenocopy? Explain your reasoning. a. Phenylketonuria results from a recessive mutation that causes light skin as well as intellectual disability. b. Human height is influenced by genes at many different loci. c. Dwarf plants and mottled leaves in tomatoes are caused by separate genes that are linked. d. Vestigial wings in Drosophila are produced by a recessive mutation. This trait is also produced by high temperature during development. e. Intelligence in humans is influenced by both genetic and environmental factors.
The expression of antigen A or antigen B in red blood cells requires the help of an H antigen. A recessive mutation (h) that prevents the synthesis of the H antigen also prevents the expression of A and B antigens. This is called the Bombay effect. There is no ill effect in an individual with this mutation, but complications with blood transfusions or parental disputes may arise. a. Individuals with the Bombay genotype (hh) produce anti-H antigen. How can this be a problem during blood transfusion?
A RFLP is discovered that is linked to the gene for Duchenne’s muscular dystrophy (DMD). DMD is an X-linked, recessive trait. The RFLP is 2 map units from the gene for DMD. Consider the following pedigree and Southern blot using a probe that hybridizes to the RFLP. Which band/s is/are associated with DMD? What is the genotype for individuals 3 and 4? (Remember, this is an X linked disease, so use X’s and Y’s to denote). Individual 9 married a man who does NOT have muscular dystrophy, and she is pregnant. DMD is an X-linked trait. What is the probability for their child to have DMD? An amniocentesis is performed and it is determined that 9’s child in utero has only a 10 kb band that hybridizes to the same probe used above. What can you say about the child now?
For gain-of-function disorders, which of the following treatment strategies is the be . A. Gene augmentation B.Supply healthy cells . C.Supply normal form of proteins encoded by wild-type allele . D. Gene silencing
The role of the TPMT genotype in response to treatment emphasizes the importance of pharmacogenomics. What changes in treatment would be recommended for someone homozygous recessive for TPMT, compared to someone that is homozygous dominant?
. Discuss how Genome-wide association studies (GWAS) can be used to identify genetic risk loci for (a) diseases with complex inheritance and (b) pharmacogenomic genotype-phenotype associations. Draw on specific examples and experimental evidence in your discussion.
Maple syrup urine disease is an autosomal recessive gene. The R allele leads to a normal protein product, whereas r leads to a mutant protein. Which genotype below will display the Maple syrup urine disease phenotype? A. Rr B. RR C. rr D. Rr and rr