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- 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 9.Redgreen color blindness is an X-linked recessive disorder in humans. Your friend is the daughter of a color-blind father. Her mother had normal color vision, but her maternal grandfather was color-blind. What is the probability that your friend is color-blind? (a) 1 (b) (c) (d) (e) 0Color blindness is a case of ________ inheritance. a. autosomal dominant c. X-linked dominant b. autosomal recessive d. X-linked recessive
- Analysis of X-Linked Dominant and Recessive Traits The following is a pedigree for a common genetic trait. Analyze the pedigree to determine whether the trait is inherited as: a. autosomal dominant b. autosomal recessive c. X-linked dominant d. X-linked recessive e. Y-linkedA heterozygous individual has _______ for a trait being studied. a. the same allele on both homologous chromosomes b. two different alleles of a gene c. a haploid condition, in genetic termsAchondroplasia 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?
- An allele responsible for Marfan syndrome Section 13.4 is inherited in an autosomal dominant pattern. What is the chance that a child will inherit the allele if one parent does not carry it and the other is heterozygous?A heterozygous individual has a _______ for a trait being studied. a. pair of identical alleles b. pair of nonidentical alleles c. haploid condition, in genetic termsThe genotype XXY corresponds to: a. Klinefelter syndrome b. Turner syndrome c. Tripto-X d. Jacob syndrome
- Analysis of X-Linked Dominant and Recessive Traits As a genetic counselor investigating a genetic disorder in a family, you are able to collect a four-generation pedigree that details the inheritance of the disorder in question. Analyze the information in the pedigree to determine whether the trait is inherited as: a. autosomal dominant b. autosomal recessive c. X-linked dominant d. X-linked recessive e. Y-linkedA 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?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?