5. (15 points) Answer the questions below based on the pedigree. Assume complete penetrance: I. II. III. IV. 4 2 3 1 2 3 4 1 2 3 4 5 6 1 ? 2 A. (6 points) This trait could possibly be (Circle all possible correct answers): X-linked recessive X-linked dominant Autosomal Dominant Autosomal recessive Y-linked Mitochondrial B. (10 points) Assuming an autosomal mode of inheritance, what is the probability that IV.2 will be an affected male?
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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. Should the parents be concerned about the heterozygous condition as well as the homozygous mutant condition?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 if the couple wanted prenatal testing so that a normal fetus could be aborted?... .. Answer BOTH Explain will upvote
- 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?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…Please explain I don’t think this is autosomal dominant as female are more affected than male and please explain B part of the question well.
- 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 3Complete the following queatione BEFORE ATTEMPTING THE HW 1 BLACKBOARD ASSIGNMENT, In the following human pedigrees, the filled symbols represnent the affected individuals who suffer from the disease. Use A/a to represent alleles for autosomal traits and XIX/Ytorepresent alleles for X-linked traits. Use the uppercase letter to represent the dominant allele and the lowercase letterto represent the receasive allele. afected fomale Unafected female affected male Unaffected male Pedigree 1: A. What is the most likely mode of inheritance of this disease? Choose from: autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive. B. State the genotypes of individuals #1-#3. C. What is the probability that individual #4 is a carrier of this disease if his mother is homozygous dominant and his father is heterozygous? Pedigree 2: What is the most likely mode of inhentance of this disease? Choose from: autosomal dominant, autosomal recessive X-linked dominant X-linked recessive.…Pedigree 2: What is the genotype of individual #4? AA Aa aa O XAXA O xAx X Xa XAY XaY
- 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 linked1) Symptoms of 4 disorders are listed. Using the lists given, fill in the correct letter for the condition name and inheritance type. Letters may be used more than once. Symptoms Condition Inheritance Туре Loss of muscle control and decline in mental ability Shades of red and green are hard to distinguish Lack of skin pigmentation Cannot produce one of the necessary blood clotting factors Conditions: Inheritance Type: A: Albinism E: X-linked dominant B: Huntington Disease F: X-linked recessive G: Y-linked C: Hemophilia H: Autosomal dominant I: Autosomal recessive D: CVD48