Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN: 9780134580999
Author: Elaine N. Marieb, Katja N. Hoehn
Publisher: PEARSON
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A mutation occurs when the sequence of DNA is altered. Mutations can occur as a result of errors in DNA copying during cell division, ionising radiation, mutagen exposure, or viral infection.
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- Duchenne Muscular Dystrophy (DMD) is a disease that manifests in muscle weakness. It exhibits X-linked recessive inheritance pattern. The dystrophin gene is large and can have many different mutations along the DNA. From the following mutations between the gene sequence (DNA template strand) of a healthy male and an affected brother determine if they would affect the production of mRNA or the sequence of the protein. Base your analysis on the position of the mutation in the transcription unit, and the impact of the change on the codons. Mutation 1: Position -6 Healthy individual A Affected brother C Group of answer choices A. Normal mRNA, normal protein B. No mRNA produced (promoter affected) C. Abnormal mRNA, affected protein D. Normal mRNA, affected protein Base your analysis on the position of the mutation in the transcription unit, and the impact of the change on the codons.arrow_forwardWhat unusual phenomenon is at work in each of the following disorders?arrow_forwardDuchenne Muscular Dystrophy (DMD) is a disorder that primarily affects the function of skeletal muscles used for movement and cardiac muscles used for heart beating. Dystrophin is a protein encoded by a single gene, DMD, that is expressed in skeletal and cardiac muscle. Some forms of muscular dystrophy may be caused by different mutations in the DNA sequence of the DMD gene. Because the DMD locus is on the X chromosome, males are affected at higher rates. Two brothers, one of whom has DMD and one of whom does not, worked with their genetic counselor (Links to an external site.) to have their DMD gene sequenced to identify genetic variation that may explain why one brother was affected and the other not. Because DMD is a very long gene, a fictionalized, simplified model of the results is presented here (Figure 1). The actual DMD mRNA is about 16,000 base-pairs!------Consider single nucleotide polymorphism (SNP) #1 (Figure 1). Is this mutation likely to cause Duchenne muscular…arrow_forward
- “In an organism that reproduces asexually, there is no difference between a somatic cell mutation and a germ line mutation.” Is this statement true? Explain.arrow_forwardHaving a mutant form of the gene XYZ is associated with a higher incidence of cancer than is seen in the general population. If mutant XYZ runs in a woman’s family, will she automatically get cancer? Explain why or why not.arrow_forwardIn a multi-cellular organism like a human, new mutations in occurring in somatic cells - such as skin cells - will be passed to the next generation (from parent to child). Select one: O True O Falsearrow_forward
- Why would a mutation in a somatic cell of a multicellular organism not necessarily result in a detectable phenotype?arrow_forwardGenetic tests that detect mutations in the BRCA1 and BRCA2 oncogenes are widely available. These tests reveal a number of mutations in these genes—mutations that have been linked to familial breast cancer. Assume that a young woman in a suspected breast cancer family takes the BRCA1 and BRCA2 genetic tests and receives negative results. That is, she does not test positive for the mutant alleles of BRCA1 or BRCA2. Can she consider herself free of risk for breast cancer?arrow_forwardSarah has always lived what many consider an active and healthy lifestyle. She makes a conscious effort to eat well and exercise daily, never smoked, and drinks moderately. Many of Sarah's female relatives (including her mother and grandmother) have had breast cancer. Sarah has decided to have her genome sequenced. She is specifically interested in whether she shows mutations in BRCA1 and BRCA2 that are linked to breast cancer. What information can be drawn from the sequence data Sarah will receive? Justify your answer. • Sarah will know if she will develop breast cancer. • Sarah will know if and when she will develop breast cancer. • Sarah will know the severity of her breast cancer based on the number of mutations; that is, the more mutations in those genes, the greater the severity of the disease. • Sarah will know whether she is predisposed to breast cancer. • Sarah will know that she will not develop breast cancer if there are no mutations in those genes.arrow_forward
- In man, muscular dystrophy is a condition in which the muscles waste away during early life and may result in a shorter life expectancy. It is due to a sex-linked, recessive gene. A certain couple has five children – three boys (ages 1yr, 3yrs, and 10yrs old) and two girls (ages 5yrs and 7yrs old). The oldest boy shows the symptoms of this disease. You are their family physician and they come to you for advice. What would you tell them about the chances of their other children developing the disease?arrow_forwardThe dominant condition elliptocytosis causes red blood cells to become misshapen into oval-shaped cells. One of the genes responsible for the abnormal shape encodes the band 4.1 protein that together with ankyrin and other scaffold proteins creates and maintains the spherical concave shape of a normal red blood cell. The gene for band 4.1 protein, EPB41, is found on the p arm of chromosome 1. This is very close to the gene encoding the red blood cell Rhesus (Rh) blood type, either phenotype + (dominant) or - (recessive), with a recombination frequency of 2%. This means that 98% of the time alleles for these two genes are linked and are transmitted together. Diane and Jack are siblings, and both have elliptocytosis and Rh+ blood type. Due to the elliptocytosis, both had emergency splenectomies after having severe anemia. Their younger brother, Devonté, has not yet shown signs of elliptocytosis, but has Rh- blood. André, their dad, also has elliptocytosis and Rh+ blood; while their…arrow_forwardA defective gene on chromosome 15 causes Tay-Sachs disease. It is a central nervous system neurodegenerative disease that most often affects infants, though older children and adults can have late-onset forms of the disease. The defective gene prevents the body from making a protein called hexosaminidase A. Without, hexosaminidase A, chemicals called gangliosides build up in the nerve cells of the brain, destroying brain cells.A couple has one daughter with Tay-Sachs disease and three other unaffected children. Neither the mother, nor father, nor any of the biological grandparents of the affected daughter have had the disease. Tay-Sachs disease most likely demonstrates what type of inheritance? Pedigree information regarding the incidence of Tay-Sachs within a family is depicted above. The row below that indicates the genotypes of individuals II-1, II-2, and III-1 is Select one: a. II-1 II-2 III-1 Aa Aa aa b. II-1 II-2 III-1 XAY XAXa XAXa c. II-1 II-2 III-1…arrow_forward
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