Explain why in human families, many traits (albinism, phenylketonuria, blue eyes ) skip a generation while traits such as polydactyly, free earlobes and A and B blood groups do not.
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Explain why in human families, many traits (albinism, phenylketonuria, blue eyes ) skip a generation while traits such as polydactyly, free earlobes and A and B blood groups do not.
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- Take the example of B-thalassemia, an autosomal recessive genetic disease that particularly affects people from around the Mediterranean. This disease is associated with an anomaly of hemoglobin, a protein essential for the transport of oxygen, which is composed of four chains: two alpha (a) and two beta (B). In case of B-thalassemia, the ẞ chains are produced in insufficient or no quantity in an individual homozygous recessive resulting in insufficient production of overall hemoglobin leading to anemia and other physiological challenges. The gene that controls the synthesis of the ẞ chains is located on chromosome 11. Here is part of the coding portion of this gene (which controls a total of 146 amino acids and of which you only see the portion 36 to 41) and one of the targeted mutations: 1. Give the sequence of amino acids from the template and mutated strands. 2. What type of point mutation is it? 3. Using the principles of the theory of evolution, explain briefly and generally why…Tay-Sachs is a recessive lethal disease in which there is neurological deterioration early in life. This disease is rare in the population overall but is found at relatively high frequency in Ashkenazi Jews from Eastern Europe. A woman has a maternal uncle who had the disease. Her father does not come from a high-risk population. Her husband’s sister died of the disease at an early age. Draw the pedigree of the individuals described. Include the genotypes where possible.The complete absence of one or more teeth (tooth agenesis) is a common trait in humans-indeed, more than 20% of humans lack one or more of their third molars. However, more severe absence of teeth, defined as missing six or more teeth, is less common and frequently an inherited condition. L. Lammi and colleagues examined tooth agenesis in the Finnish family shown in the pedigree below (L. Lammi, American Journal of Human Genetics 74:1043-1050. 2004). Which of the following modes of inheritance best fits the pattern observed in the pedigree? Note that the phenotypes in generation 1 are not known. I3D 1 2 3. 4 7 8 II 2. 6. 8. IV 2. a. Y-linked b. X-linked dominant C. X-linked recessive d. Autosomal recessive e. Autosomal dominant FEB 17 MacBook Air ... 3.
- The complete absence of one or more teeth (tooth agenesis) is a common trait in humans—indeed, more than 20% of humans lack one or more of their third molars. However, more severe tooth agenesis, defined as the absence of six or more teeth, is less common and is frequently an inherited condition. L. Lammi and colleagues examined tooth agenesis in the Finnish family shown in the pedigree below. Q.If IV-2 married a man who had a full set of teeth, what is the probability that their child would have tooth agenesis?With regard to the ABO blood types in humans, determine the genotypes of the individuals below: John: John is blood type A and his mom was type B Genotype = Jane: Jane is blood type B and her dad was type O Genotype John and Jane have kids. What are the possible blood types of their offspring, including the expected ratio of each? O John is A1", Jane is l'i, the blood type ratios of their children would be: 1 AB: 1A : 1B John is IA, Jane is l1", the blood type ratios of their children would be: 1 AB: 1 B John is 1Ai. Janc is iP1P, the blood typc ratios of their children would be: 1 AB: 1 A: 1B John is Jane is IPi, the blood type ratios of their children would be 1 AB : 1A 1B:10Phenylketonuria is one of the most common recessive genetic disorders in humans. Infants with PKU are missing an enzyme called phenylalanine hydroxylase, needed to break down an amino acid called phenylalanine. If a strict diet that minimizes the amount of phenylalanine in the diet is not followed, a severe nervous disorder may result. If two heterozygous parents have a child, hah is the possible genotype and phenotype for this individual?
- There is an autosomal gene in cats that controls whether or not they also have white patches of fur (W = white spots, w= no white spots). Considering this along with the Orange gene (O0 and OB) from the previous question, and how it works, how many possible genotypes (using these 4 alleles) are there for cats that are orange, black, and white (in other words, calico)?In rabbits, white coat color (CW) and black coat color (CB) are codominant, and both of these alleles are dominant over albino (c); heterozygotes (CWCB) are spotted. Predict the genotypes and phenotypes of the offspring from a heterozygous black-coated rabbit and a homozygous white-coated rabbit.Acatalasia is caused by a rare autosomal recessive gene. In heterozygous condition catalase activity is decreased slightly. A woman with a normal catalase activity have a husband with low catalase activity. What is the probability of children birth without anomaly in the family, if grandparents from both sides have reduced activity of catalase? Diagram the cross and mention the genotypes of all individuals in the family?
- In humans, the genetic disease cystic fibrosis is caused by a recessive allele (a). The normal (healthy) allele is dominant (A). What is the genotype of someone who has cystic fibrosis? What are the two different genotypes that a healthy person could have? If two people were both heterozygous for the cystic fibrosis gene, what fraction of their children would be likely to have this disease? Hint: Draw a Punnett square to figure it out.Albinism in humans is inherited as a simple recessive trait.Determine the genotypes of the parents and offspring for the following families. When two alternative genotypes are possible,list both.(a) Two parents without albinism have five children, four withoutalbinism and one with albinism.(b) A male without albinism and a female with albinism havesix children, all without albinism.The complete absence of one or more teeth (tooth agenesis) is a common trait in humans—indeed, more than 20% of humans lack one or more of their third molars. However, more severe tooth agenesis, defined as the absence of six or more teeth, is less common and is frequently an inherited condition. L. Lammi and colleagues examined tooth agenesis in the Finnish family shown in the pedigree below.