Pedigree 3: NOTE: the asterisk (*) indicates that the individual does not have any disease-related alleles. 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. What is the probability of individual A being affected (show the disease)? What is the probability of individual B being affected?

Pedigree 3: NOTE: the asterisk (*) indicates that the individual does not have any disease-related alleles. 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. What is the probability of individual A being affected (show the disease)? What is the probability of individual B being affected?

Name: Pedigree 3:NOTE: the asterisk (*) indicates that the individualdoes n
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Description: Pedigree 3:NOTE: the asterisk (*) indicates that the individualdoes not have any disease-related alleles.A. What is the most likely mode ofinheritance of this disease? Choosefrom: autosomal dominant, autosomalrecessive, X-linked dominant,X-linked re

Biology (MindTap Course List)

11th Edition

ISBN:9781337392938

Author:Eldra Solomon, Charles Martin, Diana W. Martin, Linda R. Berg

Publisher:Eldra Solomon, Charles Martin, Diana W. Martin, Linda R. Berg

Chapter16: Human Genetics And The Human Genome

Section: Chapter Questions

Problem 10TYU: Examine the following pedigrees. Which is the most likely mode of inheritance of each disorder? (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?
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?
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.
Does the phenotype indicated by the red circles and squares in this pedigree show an inheritance pattern that is autosomal dominant, autosomal recessive, or X-linked?
Circle any inheritance patterns that could explain this pedigree. Assume individuals marrying into the family do not have a mutant allele. Please refer to the image attached. A) Paternally imprinted B) Maternally imprinted C) Maternal inheritance D) Autosomal recessive E) Autosomal dominant F) X-linked recessive G) X-linked dominant
A woman who sought genetic counseling is found to be heterozygousfor a chromosomal rearrangement between the second andthird chromosomes. Her chromosomes, compared to those in anormal karyotype, are diagrammed on the next page:(a) This woman is phenotypically normal. Does thissurprise you? Why or why not? Under what circumstancesmight you expect a phenotypic effect of such arearrangement?
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
Classical hemophilia is a sex-linked disease caused by a recessive gene on the X chromosome. (Hemophilia refers to diseases that cause delays in blood clotting.) If a woman who is acarrierof classical hemophilia has children with a normal male, give the ratios of the possible offspring with respect to classical hemophilia. Be sure to state both the genotypes and the phenotypes of each offspring. For genotypes, use X for a normal X chromosome, Xh for an X chromosome with the hemophilia gene, and Y for a normal Y chromosome. For phenotypes, if the offspring is female, be sure to state if homozygous normal, a carrier, or has the disease. If the offspring is a male, be sure to state if normal or has the disease.
Color blindness in humans is controlled by an X-linked completely recessive allele (Xc), while breast cancer is controlled by an autosomal completely dominant allele, B. A color blind male, who is a heterozygote carrier for breast cancer has three children/n with a normal eyed female (whose mother was color blind), who is homozygote recessive for the breast cancer allele. What is the probability that out of three children, 2 will be color blind males, and not show breast cancer, and one will be a color blind female, who shows breast cancer?
X‑linked, recessive diseases, such as hemophilia, are extremely rare in the population. However, many women are carriers and show no sign of the disease. The pedigree illustrates the inheritance of an X‑linked, recessive disease. Determine whether the unknown individuals are affected by the disease, unaffected by the disease, or carriers of the X‑linked recessive allele. Unaffected individuals are not carriers of the X‑linked recessive allele.
A woman who sought genetic counseling is found to be heterozygousfor a chromosomal rearrangement between the second andthird chromosomes. Her chromosomes, compared to those in anormal karyotype, are diagrammed on the next page:(a) What kind of chromosomal aberration is shown?