221.51.00.675. (15 points) An individual comes into your clinic with a phenotype thatresembles Down's syndrome. You perform CGH by labeling the patient'shobe DNA red and her mother's DNA green. Plot the expected results of theRed:Green ratio if:A. The cause of the syndrome was an inversion on one chromosome 21 in the child0.51.51.00.670.521 p 12345678910 CEN q 123456789 10 11 12 13 14 15 16 17 18 19B. The cause of the syndrome was a duplication of the material between 21q14 and21q18 on one chromosome in the child21 p 123456789 10 CEN q 12345678910 11 12 13 14 15 16 17 18 19C. The mother carried a balanced translocation that segregated by adjacentsegregation in meiosis I and resulted in a duplication in the child of the materialdistal to the translocation breakpoint at 21q14.1.51.00.670.521 p 12345678910 CEN q 123456789 10 11 12 13 14 15 16 17 18 19momseal blo

A. Inversion on one chromosome 21Explanation: Inversions involve a rearrangement of the chromosome…

Answered: 2 2 1.5 1.0 0.67 5. (15 points) An…

Biology 2e

2nd Edition

ISBN:9781947172517

Author:Matthew Douglas, Jung Choi, Mary Ann Clark

Publisher:Matthew Douglas, Jung Choi, Mary Ann Clark

Chapter12: Mendel's Experiments And Heredity

Section: Chapter Questions

Problem 29CTQ: Why is it more efficient to perform a test cross with a homozygous recessive donor than a homozygous...

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Which of the following terms means many genes? polymorphism polygeny polypeptide multiple alleles
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?
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?
Theodor Boveri predicted that malignancies would often be associated with chromosomal mutation. What lines of evidence substantiate this prediction?
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?
Explain why it was essential that Mendel perform his crosses using a large sample size?
Klinefelter syndrome (XXY) can most be easily diagnosed by _______. a. pedigree analysis. b. aneuploidy c. karyotyping d. phenotypic treatment
Human females have two X chromosomes XX; males have one X and one Y chromosome XY. a. With respect to X-linked alleles, how many different types of gametes can a male produce? b. A female homozygous for an X-linked allele can produce how many types of gametes with respect to that allele? c. A female heterozygous for an X-linked allele can produce how many types of gametes with respect to that allele?
Achondroplasia is an autosomal dominant form of dwarfism caused by a single gene mutation. Calculate the mutation rate of this gene given the following data: 10 achondroplastic births to unaffected parents in 245,000 births.
A heterozygous pea plant produces violet flowers and yellow, round seeds. Describe the expected genotypes of the gametes produced by Mendelian inheritance. If all three genes are found on the same arm of one chromosome should a scientist predict that inheritance patterns will follow Mendelian genetics?
Human sex chromosomes are XX for females and XY for males. a. With respect to an X-linked gene, how many different types of gametes can a male produce? b. If a female is homozygous for an X-linked allele, how many different types of gametes can she produce with respect to this allele? c. If a female is heterozygous for an X-linked allele, how many different types of gametes can she produce with respect to this allele?

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