Write the genotypes next to the symbol for each person in the pedigree below assuming that it is for a dominant trait. FIG. A.2 a. Is it possible that this pedigree is for an autosomal dominant trait? b. What can you conclude from these two examples about the parents of a child that has a dominant characteristic?
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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?Examine the following pedigrees. Which is the most likely mode of inheritance of each disorder? (a) autosomal recessive (b) autosomal dominant (c) X-linked recessive (d) a, b, or c (e) a or c 10.
- 1. In the pedigree below, Use "A" for the allele associated with the dominant phenotype, and lowercase "a" for the allele associated with the recessive phenotype. Determine what is the most likely mode of inheritance of this disease (whether it is inherited as the result of an autosomal dominant or autosomal recessive trait). Write the most probable genotype for each individual based on the mode of inheritance you have determined. Show how all the partners are crossed and the expected offspring produced (You may use Punnett Square) 1 dró || IVComplete 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.…a. The ability to taste the chemical phenylthiocarbamideis an autosomal dominant phenotype, and the inabilityto taste it is recessive. If a taster woman with a nontasterfather marries a taster man who in a previous marriagehad a nontaster daughter, what is the probability thattheir first child will be(1) A nontaster girl(2) A taster girl(3) A taster boyb. What is the probability that their first two childrenwill be tasters of either sex?
- Pedigree 2: 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 #4. C If individual #3 has another daughter with the same partner, what is the probability that this daughter will be affected (show the disease)?6. The pedigree below traces the inheritance of a particular disorder. Circles are females, squares are males. Shaded symbols are affected with the disorder (NOTE: "half-shaded" symbols are NOT used here, for heterozygous individuals). What is the mode of inheritance of this disorder: is it dominant or recessive? Autosomal or X-linked? What is the genotype of the three numbered individuals? 1 2. 3.3) You have sought a job at a human genetic counseling clinic. They gave you an aptitude test shown below. Answer the yes/no questions concerning each of the following pedigrees. Pedigree A: YES or NO Could this trait be inherited as a simple autosomal recessive? Could this trait be inherited as a simple autosomal dominant? Could this trait be inherited as a simple X-linked recessive? Could this trait be inherited as a simple X-linked dominant? Pedigree B: YES or NO Could this trait be inherited as a simple autosomal recessive? Could this trait be inherited as a simple autosomal dominant? Could this trait be inherited as a simple X-linked recessive? Could this trait be inherited as a simple X-linked dominant?
- re ||| E 6. Label the genotypes for this pedigree of an X-linked recessive disorder (red- green colorblindness). (a) 2 2 3 1 3 a. How do you know? b. Label the genotypes. 4 O To 2 4 5 5 6 6 7. Is the following pedigree autosomal recessive, autosomal dominant or X-linked recessive? 2 8 O T 581) 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: CVDGeneration a. What is the genotype of the mother? b. What is the genotype of the father? c. What are the genotypes of the five children" 41. What is/are the possible inheritance pattern(s) for the characteristic in the following pedigree? 11 a. Autosomal recessive only i b. Autosomal dominant only) c. X-linked recessive only d. X-linked dominant only e. All of the above are possible. 42. What is/are the possible inheritance pattern(s) for the characteristic in the following pedigree? 11 a Autosomal recessive only b. Autosomal dominant only c. X-linked recessive only d X-linked dominant only e. All of them are possible. 43. If the phenotype followed in the pedigree below is X-linked recessive, then the genotype of 11-2 is HI a homozygous dominant b heterozygous chomozygous recessive d hemuzygous dominant e bemizygous recessive