An individual with 46, XX genotype is diagnosed with Duchenne-type Muscular Dystrophy, a recessive X-linked disorder. Genetic tests confirm that this individual is a heterozygote for this disorder. Briefly, but specifically, explain how it’s possible that they are showing symptoms of this disorder.
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An individual with 46, XX genotype is diagnosed with Duchenne-type Muscular Dystrophy, a recessive X-linked disorder. Genetic tests confirm that this individual is a heterozygote for this disorder. Briefly, but specifically, explain how it’s possible that they are showing symptoms of this disorder.
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- Consider the following pedigree, which traces the inheritance of a single-gene hereditary disease. Only individuals that are either affected or normal are shown. In other words, potential heterozygotes are NOT indicated. Characterize each of the following modes of inheritance as: impossible, unlikely, or probable. Justify your answers: Autosomal dominant Autosomal recessive X-linked dominant X-linked recessive Y linkedA mother is heterozygous for the X-linked gene for colorblindness and also heterozygous for the autosomal inherited sickle cell anemia. She is married to a man who can see color normally and who is heterozygous for sickle cell trait. Using b (colorblind), B (normal color), S (normal hemoglobin), s (sickle cell), answer the following: a. What are the genotypes of the parents? b: What is the probability of having a child who is both color blind and has sickle cell anemia?Sickle cell anemia is inherited as an autosomal recessive condition. It also exhibits incomplete dominance in that the heterozygous genotype displays a mild form of the disease known as sickle cell trait while individuals with the homozygous recessive genotype have a severe form of SCA. A man who has severe sickle cell anemia marries a woman who suffers from a mild trait. What is the probabilitu they will have a child with severe SCA?What is the probability they will have a child with mild SCA? What is the probability they will have a normal child? Show ALL work using punnett squares.
- Neurofibromatosis-1 (NF1) is an autosomal dominant disorder where tumours form in the base layer of the skin or in nerve tissues. What is the probability that individuals II-1 and II-2 will have a genetic son with NF1? Find the image attached.Amelogenesis imperfecta (AI) is a disorder of faulty tooth enamel formation. It is inherited in an autosomal dominant and X-linked dominant pattern. The expression of AI disorder is determined by mutations in the autosomal alleles. One copy of the mutated allele (A) will cause the disorder. The severity of the disorder is determined by mutations in a gene carried on the X chromosome. Normal (or non-severe) abnormality (XN) is dominant over the abnormality (or severe) (Xn) allele. In the absence of the autosomal dominant allele, the abnormality gene on the X chromosome is not expressed. Question:A woman with normal teeth had four children with a man with non-severe form of AI: A boy was born without amelogenesis imperfecta A girl was born without amelogenesis imperfecta A boy was born with severe amelogenesis imperfecta A boy was born with non severe amelogenesis imperfecta Identify the parental genotypes. Complete the Punnett square for the parental cross, and identify the…Amelogenesis imperfecta (AI) is a disorder of faulty tooth enamel formation. It is inherited in an autosomal dominant and X-linked dominant pattern. The expression of AI disorder is determined by mutations in the autosomal alleles. One copy of the mutated allele (A) will cause the disorder. The severity of the disorder is determined by mutations in a gene carried on the X chromosome. Normal (or non-severe) abnormality (XN) is dominant over the abnormality (or severe) (Xn) allele. In the absence of the autosomal dominant allele, the abnormality gene on the X chromosome is not expressed. Question:A woman with normal teeth had four children with a man with non-severe form of AI: A boy was born without amelogenesis imperfecta A girl was born without amelogenesis imperfecta A boy was born with severe amelogenesis imperfecta A boy was born with non severe amelogenesis imperfecta Identify the parental genotypes. Complete the Punnett square for the parental cross, and identify the…
- O. 2 Hemophilia A is an X-linked trait where blood clotting is affected due to a mutation in a clotting factor protein. Georgio has hemophilia and attends a support group where he meets Gbenga, who does not have the disease, but whose father has hemophilia. Her mother is not affected. A) If they marry, what percentage % of all their children will have hemophilia? % B) Georgio meets another woman, Maria, at the hemophilia support group. Maria also lacks the trait, but her mother has hemophilia while her father is unaffected. # 3 Would a Georgio-Maria mating provide a larger chance of having afflicted children compared to a Georgio-Gbenga mating? C) Show how you came up with your answer to B. Edit View Insert Format Tools Table 12pt ✓ 80 F3 V Paragraph ✓ $ 4 Yes or No 000 000 F4 DO LO % 5 BIUAV T² | F5 ^ MacBook Air 6 2 F6 V & 7 F7 * 8 DII F8 ( 9 DD F9 1 0 S FHemophilia, disease in which the blood lacks a clotting factor, is caused by an X linked recessive gene. Joe doe not have hemophilia and Lucille is heterozygous for the condition. What is the chance that their MALE child will have hemophilia? (Note: you are calculating the probability for their MALE children only, in other words if they have 1 male child, what is the probability that he will be born with the disease?) 0% 1/4 or 25% 2/4 or 50% 3/4 or 75% 4/4 or 100%Amelogenesis imperfecta (AI) is a disorder of faulty tooth enamel formation. It is inherited in an autosomal dominant and X-linked dominant pattern. The expression of AI disorder is determined by mutations in the autosomal alleles. One copy of the mutated allele (A) will cause the disorder. The severity of the disorder is determined by mutations in a gene carried on the X chromosome. Normal (or non-severe) abnormality (XN) is dominant over the abnormality (or severe) (Xn) allele. In the absence of the autosomal dominant allele, the abnormality gene on the X chromosome is notexpressed. Question:A woman with normal teeth had four children with a man with non-severe form of AI: A boy was born without amelogenesis imperfecta A girl was born without amelogenesis imperfecta A boy was born with severe amelogenesis imperfecta A boy was born with non severe amelogenesis imperfecta Identify the parental genotypes. Complete the Punnett square for the parental cross, and identify the possible…
- Consider the following pedigree. 하 3 10 (5 3 2 (a) What pattern of transmission is most consistent with this pedigree? (1) autosomal recessive, (2) autosomal dominant, (3) X-linked recessive, (4) X-linked dominant. (b) If individual V-2 marries a normal individual, and if the condition has a pene-trance of 85 percent, what is the probability that their second child will express the trait? (c) On the third line, what does the diamond with a 10 in the middle mean?The autosomal (not X-linked) gene for brachydactyly, short fingers, is dominant to normal finger length. Assume that a female with brachydactyly in the heterozygous condition is married to a man with normal fingers. What is the probability that their first child will be a brachydactylous girl? ¼ 1/2 1/8 3/4 2/3The Delacour family is descended from the Veela race, a semi-human, semi-magical humanoid people reminiscent of the Sirens in Greek mythology with special powers. Imagine that being a Veela and having these powers is a X-Linked Dominant trait that is passed on genetically. (Hint: Use the Punnett Square.) What are the possible genotypes for Fleur and Bill’s daughter, Victoire? What are the genotypic frequencies related to the female children (in percentage format)? What is the likelihood (in percentage format) that Victoire would express Veela powers?