4. Phenylketunoria (PKU) is an inborn error of metabolism of the amino acid phenylalanine. The following pedigree is of an affected family. I II III 1 2 3 4 5 a. What is the mode of inheritance of PKU? b. Which persons are known to be heterozygous for PKU? Identify from I, II, and III generations. c. What is the probability that III-2 9 is heterozygous?

4. Phenylketunoria (PKU) is an inborn error of metabolism of the amino acid phenylalanine. The following pedigree is of an affected family. I II III 1 2 3 4 5 a. What is the mode of inheritance of PKU? b. Which persons are known to be heterozygous for PKU? Identify from I, II, and III generations. c. What is the probability that III-2 9 is heterozygous?

Name: 4. Phenylketunoria (PKU) is an inborn error of metabolism of the amin
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Description: 4. Phenylketunoria (PKU) is an inborn error of metabolism of the amino acid phenylalanine. Thefollowing pedigree is of an affected family.IIIIII1 2 35a. What is the mode of inheritance of PKU?b. Which persons are known to be heterozygous for PKU? Id

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter10: From Proteins To Phenotypes

Section: Chapter Questions

Problem 3CS: A couple was referred for genetic counseling because they wanted to know the chances of having a...

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A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. What is the chance that this couple will have a child with two copies of the dominant mutant gene? What is the chance that the child will have normal height?
A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. Should the parents be concerned about the heterozygous condition as well as the homozygous mutant condition?
1. The pedigree chart in Figure 5.29 shows the inheritance of haemopiu family. Study the pattern of inheritance in the pedigree chart, and then answer the questions that follow. о 5 6. 3 8 9 10 11 Key Unaffected male Haemophiliac male О Unaffected female Fig. 5.29 Pedigree chart of a family affected by haemophilia a) What is the genotype and phenotype of individuals 2 and 4? b) (i) How many of the unaffected family members are definitely carriers of the recessive allele? (ii) How are you able to tell which of the family members are carriers? (4) (1) (3) c) (i) If Individual 11 marries a carrier female, what percentage of their sons is likely to be haemophiliacs? (1) (ii) Use a genetic diagram to show how you worked out your answer in i, (6) 2. Why is haemophilia never passed from father to son, even though it is most common in males? (4) 3. Can a mother pass on a sex-linked gene to her daughter? (1) 4. Sipho has red-green colour blindness. One of his grandfathers was also. colour…
the offspring ès) can often be autosomal I 1.1 III ad amalg od no IV 9 OTO 5 0000 anivellor and goje If individual 2 were to marry a woman with no family history of the disease, which of the following would most likely be true of their children? a. All of the children would have the disease. b. None of the children would have the disease. c. Only the sons would have the disease. d. All of the sons would be carriers of the disease. e. None of the daughters would be carriers of the disease.
4. In this pedigree of another family with hemophilia A. If the woman Il-2 has a son, what is the chance that he is affected? II B. If the woman Il-2 has a daughter, what is the chance 1 2 3 4 III that she is affected? -1 C. If the woman Il-2 has 2 sons, what is the chance that neither will be affected? D. What are the chances that the child of II-4 and Il-5 will be affected?
11. Below is a pedigree chart of an autosomal recessive disorder. Answer the following questions using the correct genetic terminology (do not just write letters like “Ee”). A. What is the genotype of individual 1 in generation II? B: What is the genotype of individual 2 in generation I?C: Is it true that individuals 6, 7, 8, 9, and 10 in generation III all have the same genotype? Why or why not?
BB AB AB A. None B.3 с.1 D.2 ВВ OE. The father AB In the pedigree presented above, an autosomal dominant disease which causes significant visual loss and eventual blindness, is segregating in the family. The disease gene causing this sight loss looks as if it may be linked to a marker locus. The alleles of this marker locus that are present in this family are allele A and allele B. Are there any recombinant individuals in this pedigree? AB ВВ AB ВВ AB ВВ AB AB ВВ
PATERNITY TESTING Family Inheritance of STR AIleles (D13S317) 110 11 14 Father 12 14 Child al 14 Child a2 11 12 Child a3 12 Mocher A). What is the meaning of the numbers above the peaks for the father? B). How many Child/children belong to both parents? C). Define STR D). Define D13S317
tion 8: below is the pedigree of inheritance of phenylketonuria (PKU). We will designate the letter Caven for the dominant allele and "p" for the recessive allele. 4 The pedigree shows that the pattern of inheritance for the allele for phenylk ylketonuria is: I. II. 1 III. IV. Autosomal dominant Autosomal recessive X-linked dominant X-linked recessive b. The parents in generation I have how many children: I. 3 Boys II. 3 Girls III. IV. 3 Boys and 1 Girl 3 Girls and 1 Boy c. What is the genotype of individual 1 in generation III: I. PP II. pp III. Pp " O 1 III. 50% E III 1 ▬ 2 2 IV. 25% 1 3 IV. Can be PP or Pp ii. Suppose that a man having type AB blood marries a woman having type O blood. What is the probability that their child will have type A blood? I. 100% II. 75% 2 4 3
14. ii) If Individuals #6 and #7 have another daughter what are the chances that she will be affected. 1 II IV a) The pedigree above shows the passing on of colorblindness. What sex is MOST likely to be carriers of colorblindness? b) Why does individual IV-7 (a female) have colorblindness? c) Why do all the daughters in generation II carry the colorblind gene? d) List two h generation colorblind males. 15. Explain sex linked inheritance with examples. 16. Explain what happens during these following sicknesses and why it happens? i) Sickle cell anemia i Hemophilia 17. What do you understand by the term "Multiple Alleles"? Define the followings: Trait true breeding cross P generation F1 generation monohybrid cross F2 generation dominant recessive law of segregation genotype phenotype homozygous heterozygous test cross dihybrid cross law of independent assortment pedigree autosomal recessive Punnett square autosomal inheritance autosomal dominant
1. What is the pattern of inheritance of 5-Alpha Reductase 2 Deficiency? answer choices: X-linked recessive X-linked dominant autosomal recessive autosomal dominant maternal/mitochondrial Y-linked 2. What is the likely genotype of individual V-8? a = recessive allele A = dominant allele What is the likely genotype of individual V-8? a = recessive allele A = dominant allele answer choices: XaY XAY aa Aa AA 3. Imagine that individual V-8 marries a female cousin who is a carrier of the 5αRD mutation. What is the probability that they will have a child who has the disorder? Enter your answer as a fraction
a. b. 1 2 3 Note: Cystic fibrosis in this family is caused by a recessive allele that is found on chromosome 7. A genetic counsellor collected pedigree information regarding the incidence of cyctic fibrosis within this family. The row that indicates the genotypes of individuals 1-1, 1-2, and II-2 is Select one: C. Pedigree of a Family with Cystic Fibrosis PTO 1 2 d. I II I-1 XAY I-1 AA I-1 XAY I-1 Aa 1-2 хаха 1-2 aa 1-2 ΧΑΧΑ 1-2 Aa II-2 XAY 11-2 Aa II-2 хау II-2 aa O