Concept explainers
Galactosemia is an autosomal recessive disorder caused by the inability to
a. Draw a pedigree that includes Amanda, Brice, and their siblings and parents. Identify the genotype of each person, using G and g to represent the dominant and recessive alleles, respectively.
b. What is the probability that Amanda is a carrier of the allele for galactosemia? What is the probability that Brice is a carrier? Explain your reasoning for each answer.
c. What is the probability that the first child of Amanda and Brice will have galactosemia? Show your work.
d. If the first child has galactosemia, what is the probability that the second child will have galactosemia? Explain the reasoning for your answer.
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Genetic Analysis: An Integrated Approach (3rd Edition)
- 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 Use the first question to provide an explanation for these observations. What type of genetic effect…arrow_forwardPhenylketonuria (PKU) is a genetic disorder that causes the abnormal metabolism of the amino acid called phenylalanine. PKU is an autosomal recessive disease due to a mutation in the gene encoding the enzyme phenylalanine hydroxylase. Phenylalanine hydroxylase (PAH) usually converts excess phenylalanine into tyrosine. In persons with PKU, the remaining phenylalanine is instead converted into phenylpyruvate (also known as phenylketone). This results in a poisonous build-up of phenylketone in the blood and urine that is why it is called phenylketonuria. When PKU is untreated, it can lead to brain damage, mental retardation and other serious medical problems. Babies with PKU are normal at birth due to the mother’s ability to break down phenylalanine during pregnancy. PKU can be diagnosed through a simple blood test for elevated phenylalanine levels shortly after birth.Answer the following questions:1. What is phenylketonuria (PKU)? How important is the synthesis of correct proteins?2. How…arrow_forwardPhenylketonuria (PKU) is a human hereditary disease resulting from the inability of the body to process the chemical phenylalanine, which is contained in the protein we eat. PKU is manifest in early infancy and, if it remains untreated, generally leads to cognitive impairment. PKU is caused by a recessive allele with simple Mendelian inheritance. A couple intends to have children but consults a genetic counselor because the man has a sister with PKU and the woman has a brother with PKU. There are no other known cases in their families. They ask the genetic counselor to determine the probability that their first child will have PKU. What is this probability?arrow_forward
- parents, but her brother Alonzo has Galactosemia. Brice has a similar family history. He and his parents are healthy, but his sister Brianna has galactose, a component of the lactose found in mammalian milk. Galactosemia can be galactosemia. Amanda and Brice are planning on marrying and starting a family and partially managed by eliminating dietary intake of lactose and galactose. Amanda is Galactosemia is an autosomal recessive disorder caused by the inability to metabolize seek genetic counseling. Based on the information provided, complete the following: healthy, as are her A piaw a pedigree that includes Amanda, Brice, their siblings, and parents. Identily the genotypes of each person using G and a to represent the dominant and recessive alleles. B What is the probability that Amanda is a carrier of the allele for galactosemia? Same question for Brice? Explain. non bard bito te over ovodaarrow_forwardAchondroplasia is an autosomal dominant disorder characterized by disproportionate short stature: the legs and arms of people with achondroplasia are short compared with the head and trunk. The disorder is due to a base substitution in the gene, located on the short arm of chromosome 4, that encodes fibroblast growth factor receptor 3 (FGFR3). Although achondroplasia is clearly inherited as an autosomal dominant trait, more than 80% of the people who have achondroplasia are born to parents with normal stature. This high percentage indicates that most cases are caused by newly arising mutations; these cases (not inherited from an affected parent) are referred to as sporadic. Studies have demonstrated that sporadic cases of achondroplasia are almost always caused by mutations inherited from the father (paternal mutations). In addition, the occurrence of achondroplasia is higher among the children of older fathers; approximately 50% of children with achondroplasia are born to fathers…arrow_forwardPhenylketonuria 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?arrow_forward
- 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.arrow_forwardSickle 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.arrow_forwardGalactosemia is a metabolic condition, caused by a recessive allele, which prevents affected patients from breaking down certain sugars. In infants galactosemia can lead to a toxic build-up of the by- product galactol, but negative effects can be minimized if the condition is identified early and the child is kept on a diet free from lactose or galactose. John and Maggie both know they are carriers of the galactosemia allele. They have just been married and hope to start a large family. If they have four children, what is the chance that none of them will be affected by the disease? (4 points)arrow_forward
- Acatalasemia is a rare autosomal recessive condition that results in no expression of the enzyme catalase; however, persons with this condition are usually only mildly affected. The enzyme catalase is found in most organisms and is a protection against oxidative damage, specifically breaking down the highly reactive oxygen species, hydrogen peroxide. Symptoms may include mouth ulcers that disappear with good dental hygiene; with poor dental hygiene, the ulcers can lead to gangrene in the mouth soft tissues. Persons with this condition usually do not know they are affected unless a family member is tested for the mutation. Dejah recently learned that her Uncle Malik had a dental surgery that was complicated by mouth ulcers and gangrenous tissue that had to be removed. The oral surgeon had learned about genetic conditions that affect oral hygiene and recognized that this could be acatalasemia, and ordered genetic testing. Uncle Malik was positive for this recessive condition, having…arrow_forwardOlivia S. was born with a rare recessive disorder called tyrosinemia.The next day, Olivia M. was born in a neighboringstate with the same disorder. Tyrosinemia is causedby the lack of an enzyme in the degradation pathway of the aminoacid tyrosine. Accumulation of metabolic intermediates causesprogressive liver dysfunction and kidney problems. One-year-oldOlivia S. is healthy and has no symptoms of the disorder. At thesame age, Olivia M. developed total liver failure. Olivia S. was bornin a state where newborns are tested for tyrosinemia, but Olivia M.was born in a state where newborns are not tested for this disorder.A week after diagnosis, Olivia S. was placed on a low-tyrosinediet and prescribed a drug to block the accumulation of metabolicintermediates. Olivia M. was not diagnosed until she was in liverfailure; she then was placed on a low-tyrosine diet, was prescribedmedication, and underwent a liver transplant. She faces a lifetimeof antirejection drug therapy and may require a…arrow_forwardBloom'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 onearrow_forward
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