Based on the information provided, you can infer that individual III-1 inherited both the A.) and the B.) of the SNP from his father. Pick Correct Answer A.) allele that causes neucrofibromatosis or wild type allele B.) G or T
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Based on the information provided, you can infer that individual III-1 inherited both the A.) and the B.) of the SNP from his father.
Pick Correct Answer
A.) allele that causes neucrofibromatosis or wild type allele
B.) G or T
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Solved in 2 steps
- 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?Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?
- Achondroplasia is a rare dominant autosomal defect resulting in dwarfism. The unaffected brother of an individual with achondroplasia is seeking counsel on the likelihood of his being a carrier of the mutant allele. What is the probability that the unaffected client is carrying the achondroplasia allele?Phenylketonuria and alkaptonuria are both autosomal recessive diseases. If a person with PKU marries a person with AKU, what will the phenotype of their children be?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?
- In 1995, doctors reported a Chinese family in whichretinitis pigmentosa (progressive degeneration of theretina leading to blindness) affected only males. Allsix sons of affected males were affected, but all of thefive daughters of affected males (and all of thechildren of these daughters) were unaffected.a. What is the likelihood that this form of retinitispigmentosa is due to an autosomal mutationshowing complete dominance?b. What other possibilities could explain the inheritance of retinitis pigmentosa in this family? Whichof these possibilities do you think is most likely?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 9XPedigree 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
- Two fruit flies (Drosophila melanogaster) were crossed. The cross was between a homozygous red-eyed, wingless female and a white-eyed male heterozygous for wings. Recall that red eyes (R) is dominant over white eyes (r) and is inherited on the X chromosome (sex-linked) and as such, eye colour alleles should be written as superscript. In addition, the autosomal trait wings (W) is dominant over wingless (w). 1. List the female genotype 2. List the male genotype 3. Construct a Punnett Square for this dihybrid cross on a piece of paper, to determine what the offspring of such a cross would be with respect to sex, eye colour & wings. 4. Using the information from your Punnett Square answer the following: a. What genotypes did you get (list all genotype combinations; if you have more than one of the same kind, you do NOT have to re-list it.) b. What are the phenotypic ratios of the offspring with respect to sex, eye colour and wings?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.In mice, the autosomal locus coding for the β-globinchain of hemoglobin is 1 m.u. from the albino locus. Assume for the moment that the same is true in humans. The disease sickle-cell anemia is the result ofhomozygosity for a particular mutation in theβ-globin gene.a. A son is born to an albino man and a woman withsickle-cell anemia. What kinds of gametes will theson form, and in what proportions?b. A daughter is born to a normal man and a womanwho has both albinism and sickle-cell anemia.What kinds of gametes will the daughter form,and in what proportions?c. If the son in part (a) grows up and marries thedaughter in part (b), what is the probability that achild of theirs will be an albino with sickle-cellanemia?