1. Chris and Emma are phenotypically normal but carriers for SCA (gene A). a. What are their genotypes? b. With respect to gene A, what are the possible genotypes of the gametes that they can produce. Emma: Chris: ||
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- The Hemoglobin gene has two very common alleles: HbS and HbA. Bob’s professor asks him to draw the chromosomes for an individual that is HbSHbA and label the alleles. Bob draws this (below). Explain why Bob is wrong and then draw it correctly. FOXP2 is a gene in humans; humans that have mutated copies of FOXP2 often have trouble speaking. It is on Chromosome 7, which is about 160 million base pairs long. FOXP2 is at position 115 million base pairs. Which of the drawings below appropriately diagrams the location of FOXP2? Why?Menkes disease in humans is caused by a mutation in a copper-transport protein that is coded for by an X-linked gene. Individuals with the recessive form of this mutant gene MNK have a copper deficiency which results in kinky hair, growth failure and nervous system deterioration. Carl has Menkes disease, but his parents both have normal copper transport. In his family history, he knows that his grandfather and uncle on his mother’s side both had Menkes disease. None of his female relatives are known to have Menkes disease. If Carl marries Felicia, who has normal copper transport. Felicia’s mother is not a MNK carrier but her father has Menkes disease. What are the expected phenotypic and genotypic ratios of their children (state your answers as percentages of sons and daughters)? (Show your work using a Punnett Square)Menkes disease in humans is caused by a mutation in a copper-transport protein that is coded for by an X-linked gene. Individuals with the recessive form of this mutant gene MNK have a copper deficiency which results in kinky hair, growth failure and nervous system deterioration. Carl has Menkes disease, but his parents both have normal copper transport. In his family history, he knows that his grandfather and uncle on his mother’s side both had Menkes disease. None of his female relatives are known to have Menkes disease. (a) What is Carl’s mother’s genotype? (b) What is Carl’s father’s genotype? (c) What is Carl’s genotype? (d) Carl’s sister is normal for copper transport. What is the chance that she is a carrier? (Show your work using a Punnett Square)
- Menkes disease in humans is caused by a mutation in a copper-transport protein that is coded for by an X-linked gene. Individuals with the recessive form of this mutant gene MNK have a copper deficiency which results in kinky hair, growth failure and nervous system deterioration. Carl has Menkes disease, but his parents both have normal copper transport. In his family history, he knows that his grandfather and uncle on his mother’s side both had Menkes disease. None of his female relatives are known to have Menkes disease. (a) What is Carl’s mother’s genotype? (b) What is Carl’s father’s genotype? (c) What is Carl’s genotype? (d) Carl’s sister is normal for copper transport. What is the chance that she is a carrier?(Show your work using a Punnett Square) (e) If Carl marries Felicia, who has normal copper transport. Felicia’s mother is not a MNK carrier but her father has Menkes disease. What are the expected phenotypic and genotypic ratios of their children (state your answers as…The 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…Duchenne 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…
- A 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. 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 XAY XAXA XaXa d. II-1 II-2 III-1 AA aa AaHemophilia is an X linked recessive condition. A woman has a brother who is hemophiliac and while she does not have the condition she has a brother who has the condition. Hemophilia is due to a mutation in a clotting factor. The exon intron structure of a clotting factor gene is shown below. Exons are blue rectangles. You analyze the DNA of the woman and her brother by PCR using primers which bind to the left and right of exon 4. The results of the gel of the PCR products are shown below. The negative end of the gel is at the top, the positive is at the bottom. Based on these results, what kind of mutation does the brother have? Exon 1 Woman The brother is missing part or all of exon 4 The brother has a single nucleotide change in exon 4 The brother has an additional exon 5 Brother 6 7 8In 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?
- 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?The protein known as tyrosinase is needed to make certain types of pigments. Tyrosinase is composed of a single polypeptide with 511amino acids. The molecular mass of this protein is approximately61,300 Da, or 61.3 kDa. People who carry two defective copies ofthe tyrosinase gene have the condition known as albinism. They areunable to make pigment in the skin, eyes, and hair. Western blottingis used to detect proteins that are translated from a particularmRNA. This method is described in Chapter 20 and also in experimentalquestion E4. Skin samples were collected from a pigmentedindividual (lane 1) and from three unrelated albino individuals(lanes 2, 3, and 4) and subjected to a Western blot analysis using anantibody that recognizes tyrosinase.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.