|| 6. Label the genotypes for this pedigree of an X-linked recessive disorder (red- green colorblindness). (a) 1 1 2 2 3 3 4 2 4 5 5 6 6 7 8 7. Is the following pedigree autosomal recessive, autosomal dominant or X-linked recessive? a. How do you know?
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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?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?
- 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 3Pedigree 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)?zto.mheducation.com/ext/map/index.html?_con%=con&external_browser=0&launchUrl=https%253A%252F%252Flms.mheducation.com%252Fmghmiddleware? er 10 Assignment Saved Classify the following conditions based on whether they are describing autosomal dominance, autosomal recessive, or both. Autosomal Dominant Affected children can have unaffected pped parents Book Print Heterozygotes are affected erences Autosomal Recessive Heterozygotes have a normal phenotype Both males and females are affected with equal frequency Both Affected children have at least one affected parent 080 acer -> %24 % 2. 6.
- Complete 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.…Genetic Inheritance Patterms Retinitis pigmnentosa (RP) can be autosomal recessive, autosomal dominant, or x-linked. Apparently the dominant forms are often less severe. Eric's form of RP is Usher's Syndrome, which is an autosomal recessive inheritance (i.e., you must get a copy of the defective gene from your Mom and one from your Dad). Autosomal means it is not carried on one of the chromosomes that determines sex. Usher's Type II is recessive, so for Eric this means that both his Mom and Dad are carriers of this condition. His brother, Dirk, does not have any symptoms of RP. Question below - short answer approach Imagine you are a genetics counselor, and Dirk, Erik's brother, comes in to see you. Based on his parents, what are Dirk's possible genotypes for RP? What advice would you give Dirk about the chances of Dirk's children having retinitis pigmentosa if his wife is not a carrier? How would your advice change if his wife fully has the disease? Describe all the possibilities,…Genetic Inheritance Patterms Retinitis pigmentosa (RP) can be autosomal recessive, autosomal dominant, or x-linked. Apparently the dominant forms are often less severe. Eric's form of RP is Usher's Syndrome, which is an autosomal recessive inheritance (i.e., you must get a copy of the defective gene from your Mom and one from your Dad). Autosomal means it is not carried on one of the chromosomes that determines sex. Usher's Type II is recessive, so for Eric this means that both his Mom and Dad are carriers of this condition. His brother, Dirk, does not have any symptoms of RP. Draw a pedigree of Eric's family showing possible genotypes and chances of having RP. Your pedigree must include his parents, Eric, his brother Dirk, and a potential daughter of Eric's. Draws a pedigree that shows the correct genotypes and chances of having retinitis pigmentosa for Eric and his family. D.Focus (United States) a S W 37 F 八 口
- An individual with 46, XX genotype is diagnosed with Duchenne-type Muscular Dystrophy, a recessive X-linked disorder. Genetic tests confirm that this individual is a heterozygote for this disorder. Briefly, but specifically, explain how it’s possible that they are showing symptoms of this disorder.A young lady requested pre-marital genetic counselling because her sister had died in infancy of gangliosidosis, an autosomal recessive disease. What is the risk that this young lady has similarly affected offspring? What advice should be given?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?