8 Phenylketonuria (PKU) is one of the most common recessive genetic disorders in humans. Infants with PKU are missing an enzyme called phenylalanine hydroxylase, which is 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 (Pp) have a child, what is the possible genotype and phenotype for this individual? a. genotype of male b. genotype of female c. genotypes of offspring d. phenotypes of offspring
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For the following people. Use H to represent the production of the functional phenylalanine hydroxyls enzyme and h to represent the production of non-functional phenylalanine hydroxyls. Match the person to their genotype
- Phenylketonuria (PKU) is an autosomal recessive disease that results from a defect in an enzyme that normally metabolizes the amino acid phenylalanine; when this enzyme is defective, high levels of phenylalanine cause brain damage, in the past, most children with PKU became intellectually disabled. Fortunately, intellectual disability can be prevented in these children by carefully controlling the amount of phenylalanine in the diet. The diet is usually applied during childhood when the brain development is taking place. As a result of this treatment, many people with PKU now reach reproductive age. Children born to women with PKU (who are no longer on a phenylalanine-restricted diet) frequently have low birth weight, developmental abnormalities, and intellectual disabilities. However, children of men with PKU do not have these problems. QUESTION: Describe the results depicted in Fig. 1 Use the first question to provide an explanation for these observations. What type of genetic…Phenylketonuria (PKU) is an autosomal recessive disease that results from a defect in an enzyme that normally metabolizes the amino acid phenylalanine; when this enzyme is defective, high levels of phenylalanine cause brain damage, in the past, most children with PKU became intellectually disabled. Fortunately, intellectual disability can be prevented in these children by carefully controlling the amount of phenylalanine in the diet. The diet is usually applied during childhood when the brain development is taking place. As a result of this treatment, many people with PKU now reach reproductive age. Children born to women with PKU (who are no longer on a phenylalanine-restricted diet) frequently have low birth weight, developmental abnormalities, and intellectual disabilities. However, children of men with PKU do not have these problems. Describe the results depicted in Fg1. and us it to provide an explanation for these observations What type of genetic effect is…1a) Explain how amino acids in casein could reach the liver, starting fromthe moment when the person takes a bite of pastry cream pie. b) Congenital lactase deficiency is a type of lactose intolerance that occursin infants. It is inherited in an autosomal recessive pattern. Calculate thechance of congenital lactose intolerance in a child whose parents are both carriersfor the disorder, showing fully how you reached your answer.
- 9) Polysaccharide Storage Myopathy (PSM) is a dominant autosomal hereditary condition in horses that can cause muscle damage and inability to move. It is often referred to as “tying-up”. Equine hyperkalemic periodic paralysis (HYPP) is also a dominant autosomal hereditary condition in horses that has been traced back to a horse named Impressive who died in 1995 at the age of 26. Symptoms of HYPP include muscle twitching and unpredictable paralysis attacks that can lead to sudden death. Recall that with dominant disorders, only one dominant allele will result in the condition being manifested. a. A stallion with HYPP and PSSM whose mother had neither disorder is crossed with a mare who has neither HYPP or PSSM. Construct a punnett square and state the probability that this cross will result in a foal with neither HYPP or PSSM (think of this as a two-gene cross). b. What are the possible genotypes and phenotypes of all the foals? c. Probability of a foal without HYPP or PSSM?Sickle-cell anemia is a recessive autosomal disorderthat is caused by an amino acid substitution in theβ-hemoglobin protein. The DNA mutation underlyingthis substitution is a SNP that alters a GAG codon forthe amino acid glutamate to a GTG that codes a valine.The frequency of sickle-cell anemia among AfricanAmericans is about 1/400. What is the frequency ofthis GTG codon in the β-hemoglobin gene amongAfrican Americans?Which of the following best explains how individuals who inherit phenylketonuria alleles can avoid the symptoms of this disease (mental impairment, foul smelling urine)?
- Lesch-Nyhan syndrome is due to a mutation in a gene that encodesa protein called hypoxanthine-guanine phosphoribosyltransferase(HPRT). HPRT is an enzyme that functions in purine metabolism.People afflicted with this syndrome have severe neurodegenerationand loss of motor control. The pedigree below contains severalindividuals with Lesch-Nyhan syndrome, shown with blacksymbols. Based on this pedigree, does this syndrome appearto be inherited by an autosomal recessive, autosomal dominant,X-linked recessive, or X-linked dominant pattern? Explainyour reasoning.In individuals affected by cystic fibrosis, salt crystals may appear afterperspiration dries up. In addition, the disease causes respiratory disorderswhich can be both debilitating and lethal. It occurs in individuals homozygousfor the recessive gene. Two normal parents had a daughter with thesymptoms of this disease, and a normal son who marries a normal womanwith an afflicted A test (salt concentration in perspiration of heterozygotes ishigher than normal) disclosed that both are indeed carriers of the gene. If thefirst child born to the mating in (b) was defective, what is the probability thatthe 2nd child would also be defective?Express answer in fraction formBloom's Syndrome is an autosomal recessive disorder due to mutations in a helicase protein. Some of the consequences of this disease are higher frequency of cancer and a shortened lifespan. Which of the following properties would not be expected to be associated with this disorder? two carrier parents one carrier parent and one normal one
- Canavan Disease Canavan disease in an autosomal recessive disorder caused by mutations in the gene that codes for the enzyme aspartoacylase resulting in incomplete synthesis of myelin sheaths. Individuals affected by Canavan disease experience lack of motor development, abnormal muscle tone, and difficulty feeding. Most individuals affected by this disease die before the age of 10. In a particular population in Canada, researchers examined 250 people for Canavan disease and found that 45 of them had the disorder. a) What is the frequency of Canavan disease in the population examined by the researchers? Show all your work. Express your answer as a value between 0 and 1 rounded to two decimal places. b) What is the frequency of the Canavan disease carriers in the population examined by the researchers? Show all your work. Express your answer as a value between 0 and 1 rounded to two decimal places.Phenylketonuria and alkaptonuria are both autosomal recessive diseases. If a person with PKU marries a person with AKU, what will the phenotype of their children be?Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?