Part A What is the probability that the first son of a woman whose brother has Lesch-Nyhan syndrome will be affected? Express your answer as a fraction (example 1/16). Submit Request Answer Part B If the first son of the woman described in (a) is affected, what is the probability that her second son is affected? Express your answer as a fraction (example 1/16). Submit Request Answer

Part A What is the probability that the first son of a woman whose brother has Lesch-Nyhan syndrome will be affected? Express your answer as a fraction (example 1/16). Submit Request Answer Part B If the first son of the woman described in (a) is affected, what is the probability that her second son is affected? Express your answer as a fraction (example 1/16). Submit Request Answer

Name: I ReviewLesch-Nyhan syndrome (OMIM 300322) is a rareX-linked recessiv
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Description: I ReviewLesch-Nyhan syndrome (OMIM 300322) is a rareX-linked recessive disorder that produces severemental retardation, spastic cerebral palsy, and self-mutilation.Part AWhat is the probability that the first son of a woman whose brother has Lesch-N

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?
Shown above is a family pedigree tree in which family members afflictedwith the disease Haemophilia are shown with filled-in squares (male) or circles (females). A couple is trying to determine the likelihood of passingon the disease to their future children (represented by the ? symbolabove) because the hemophilia runs in the woman’s family. Turner syndrome is a disease in which an individual is bornwith only a single X chromosome. Suppose the woman in thecouple is a carrier for hemophilia and has a child with Turnersyndrome. Would this child have the disease?
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?
tate.edu/d21/le/content/5003190/viewContent/44015425/View 8. Consider the following phenotype for hemophilia, a recessive X-linked blood clotting disorder, in decendents of Queen Victoria. Victoria is thought to have been a carrier for the recessive hemophilia allele. What is the probability that Princess Irene is also a carrier? Albert Victoria (1819-1901) Helena Leopold Alice of Hesse Empress Edward Beatrice Victoria VII Princess Duke of Christian Albany Kaiser George Wilhelm II Princess Frederick (Alexandra) Irene Alice of Athlone Victoria Leopold Maurice Eugenie (wife of Alfonso XIII) Alix Tsarina Nikolas II
A young couple went to see a genetic counselor because each had a sibling with cystic fibrosis. (Cysticfibrosis is a recessive disease, and neither member ofthe couple nor any of their four parents is affected.)a. What is the probability that the female of thiscouple is a carrier?b. What are the chances that their child will havecystic fibrosis?c. What is the probability that their child will be acarrier of the cystic fibrosis disease allele?
Neurofibromatosis-1 (NF1) is an autosomal dominant disorder where tumours form in the base layer of the skin or in nerve tissues. What is the probability that individuals II-1 and II-2 will have a genetic son with NF1? Find the image attached.
Pedigree attached shows an autosomal recessive genetic disease. G is the normal allele and g is the disease-causing allele. Individual 1’s father is heterozygous (*) and his mother is homozygous dominant. Other individuals in the pedigree may be carriers, but are not marked. The question mark (?) indicates that you do not yet know anything about this individual’s phenotype with regard to the disease. part a) What is the probability that individuals 1 and 2 will have a child (5) who is a boy with the disease (the child is unborn and the sex is not yet known)? a)1/8 b)1/4 c)0 d)1/16 part b) What is the probability that the daughter (6) that individual 3 and 4 just had will have the disease? a)1/8 b)1/6 c)1/4 d)1/12
Consider this pedigree showing an autosomal dominant rare disorder. What is the degree of penetrance? Show your work. na оп 16 19 fa 16 R 9X
Sickle 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.
Answer 2 Duchenne muscular dystrophy is a sex-linked recessive disorder characterized by a progressive loss of muscle tissue. Neither Carla nor Rudy has Duchenne muscular dystrophy, but their first son does have it. What can you say about Rudy's or Carla's genotype in relation with the disorder? If the couple has a second child, what is the probability that he or she will also have the disease? Show your answers with a Punnet square.
The following pedigree shows the inheritance of a rare genetic disorder. Determine the most likely mode of inheritance, and for exam practice (unmarked on the assignment) write a clear justification for your conclusion. Remember that some pedigrees don't provide sufficient data/information to discriminate between possibilities. If that is the case, select all the possible answers. I III Tb 2 3 1 1 3 autosomal dominant autosomal recessive Osex-linked dominant Osex-linked recessive O 2 H