The mini-pedigree below illustrates a pair of expectant parents. One of them is heterozygous for a dominant allele causing a fully penetrant, autosomal trait (filled square). The other is unaffected and lacks the dominant allele (open circle). The unborn child of this couple is represented by the diamond; the child's phenotype is not yet known. A SNP locus 10 map units from the gene determining this trait has 3 alleles: A, G and C; the genotype of each individual for this SNP is shown below their pedigree symbol. If the G allele of the SNP locus is on the same chromosome as the dominant trait allele in the affected parent, what is the probability that the child will eventually express the trait? AG O 0% 90% O 10% 100% AC CC

The mini-pedigree below illustrates a pair of expectant parents. One of them is heterozygous for a dominant allele causing a fully penetrant, autosomal trait (filled square). The other is unaffected and lacks the dominant allele (open circle). The unborn child of this couple is represented by the diamond; the child's phenotype is not yet known. A SNP locus 10 map units from the gene determining this trait has 3 alleles: A, G and C; the genotype of each individual for this SNP is shown below their pedigree symbol. If the G allele of the SNP locus is on the same chromosome as the dominant trait allele in the affected parent, what is the probability that the child will eventually express the trait? AG O 0% 90% O 10% 100% AC CC

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Description: The mini-pedigree below illustrates a pair of expectant parents. One of them is heterozygous for adominant allele causing a fully penetrant, autosomal trait (filled square). The other is unaffected andlacks the dominant allele (open circle). The unb

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter11: Genome Alterations: Mutation And Epigenetics

Section: Chapter Questions

Problem 16QP: Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior...

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A SNP marker is found linked to the cystic fibrosis gene. Cystic fibrosis is an autosomal recessive disease. A couple plans to have children together and both are carriers for the cystic fibrosis gene but do not have the disease themselves. They are both A1/A2 at the SNP and the A2 allele is linked with the allele causing cystic fibrosis. Assuming no crossing over between the SNP and the disease gene, what genotypes in the offspring could result that would cause cystic fibrosis? O A1-cf, A1 - cf O A2-cf, A2 - cf O A1 - CF, A1 - CF O A1 - CF, A2 - cf
X-linked Recessive Inheritance A gene is described as X-linked when it occurs on the X chromosome and not the Y. Our convention is to indicate X-linkage by attaching the appropriate gene symbol as a superscript on the letter X. Commonly, the wild-type (+) allele is indicated with only a "+" to avoid having to type a superscript on a superscript. For example, a female that is heterozygous and carrying a recessive mutant allele is indicated as X+Xm. Note the convenience of the shorthand + for m+ in this situation. A mutant male has the genotype XmY. When working with X-linked inheritance, always include the X and Y chromosomes in the descriptions of genotypes, and include the sex (male or female) in the descriptions of the phenotypes (e.g., mutant male, wild-type female, etc.). Here are the genotypes and associated phenotypes for X-linked recessive inheritance: X+X+ Wild-type female X+Xm Wild-type female xmxm Mutant female X+Y xmy Wild-type male Mutant male
Give typing answer with explanation and conclusion The father of Mr Spock, first officer of the starship Enterprise, came from planet Vulcan; Spock’s mother came from Earth. A Vulcan has pointed ears (P), adrenals absent (A), and a right-sided double heart (R). All these alleles are dominant to Earth alleles. The three loci are autosomal, and they are linked as shown: --P----- 15 mu -----A-------- 20 mu --------R— Here's the new twist: having Vulcan adrenals and a human heart is an embryonic lethal combination, which will distort the proportion of the various phenotypes. If Mr Spock marries an Earth woman and there is no genetic interference, what proportion (0…1.0) of their children will have the phenotypes: A. Human ears, Vulcan heart, human adrenals B. Human ears, human heart, Vulcan adrenals C. Vulcan ears, Vulcan heart, Vulcan adrenals D. Vulcan ears, human heart, human adrenals
Dominant negative Incomplete dominance Epistasis Recessive lethal allele III ||| E A condition where one gene has the ability to override the expression of another gene no matter what the relationship is between the other gene's alleles. A condition when a new mutation is able to suppress or revert an earlier mutation allowing wildtype function to reappear. A condition where a recessive allele influences the shape of a protein dimer product in the heterozygous condition so that it neither resembles the homozygous dominant nor the homozygous recessive conditions leading to a LOF in the heterozygous state and the recessive state. A condition where two recessive alleles will be fatal to an offspring although it will not affect a
Assuming both hemophilia and red-green colorblindness are rare traits, who is recombinant in generation III? (Select all that apply.) Male 甲 Female I Hemophilia A O Hemophilia B %3D Color-blind Hemophilic and color-blind None IlII-3 male III-1 male III-2 male III-4 male
Construct pedigree charts using the inheritance of hemophilia in figure 92 (page 113). This is X-linked inheritance so you are required to label XX for females and XY for males. The gene responsible for the trait is represented by the superscript which should be specified in the legend.
a. On the basis of this pedigree, what is the most likely mode of inheritance for the disease? Explain your reasoning. b. Based your answer to part a, give the most likely genotypes for all family members in the pedigree.
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?
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 proband female with an unidentified disease seeks the advice of a genetic counselor before starting a family. Based on the following data, the counselor constructs a pedigree encompassing three generations: (1) The maternal grandfather of the proband has the disease. (2) The mother of the proband is unaffected and is the youngest of five children, the three oldest being male. (3) The proband has an affected older sister, but the youngest siblings are unaffected twins (boy and girl). (4) All the individuals who have the disease have been revealed. Duplicate the counselors feat
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?