IV 1 = female - male 2 3 11 2 4 3 ? 4 C 2 5 5 3 4 6 6 The disease trait in this pedigree is autosomal recessive and causes a severe hearing defect. What is the probability that the 2 people indicated in IV (individuals IV-4 and IV-5) will have a child with the disease trait? OA. The probability is 1 in 2 OB. The probability is 1 in 12 OC. The probability is 1 in 4 OD. The probability is 1 in 8 OE. The probability is 1 in 6

IV 1 = female - male 2 3 11 2 4 3 ? 4 C 2 5 5 3 4 6 6 The disease trait in this pedigree is autosomal recessive and causes a severe hearing defect. What is the probability that the 2 people indicated in IV (individuals IV-4 and IV-5) will have a child with the disease trait? OA. The probability is 1 in 2 OB. The probability is 1 in 12 OC. The probability is 1 in 4 OD. The probability is 1 in 8 OE. The probability is 1 in 6

Name: IV1= female- male23||2413?42553 466The disease trait in this pedigree
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Description: IV1= female- male23||2413?42553 466The disease trait in this pedigree is autosomal recessive and causes a severe hearing defect. What is the probability that the 2 peopleindicated in IV (individuals IV-4 and IV-5) will have a child with the disease

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 5QP: Achondroplasia is a rare dominant autosomal defect resulting in dwarfism. The unaffected brother of...

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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?
As it turned out, one of the tallest Potsdam Guards had an unquenchable attraction to short women. During his tenure as guard, he had numerous clandestine affairs. In each case, children resulted. Subsequently, some of the childrenwho had no way of knowing that they were relatedmarried and had children of their own. Assume that two pairs of genes determine height. The genotype of the 7-foot-tall Potsdam Guard was A9A9B9B9, and the genotype of all of his 5-foot clandestine lovers was AABB. An A9 or B9 allele in the offspring each adds 6 inches to the base height of 5 feet conferred by the AABB genotype. a. What were the genotypes and phenotypes of all the F1 children? b. Diagram the cross between the F1 offspring, and give all possible genotypes and phenotypes of the F2 progeny
A pedigree analysis was performed on the family of a man with schizophrenia. Based on the known concordance statistics, would his MZ twin be at high risk for the disease? Would the twins risk decrease if he were raised in an environment different from that of his schizophrenic brother?
Mike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Once a family member is tested for the mutant allele, is it hard for other family members to remain unaware of their own fate, even if they did not want this information? How could family dynamics help or hurt this situation?
Mike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Is colon cancer treatable? What are the common treatments, and how effective are they?
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?
Mike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Seventy-five percent of people who carry the mutant allele will get colon cancer by age 65. This is an example of incomplete penetrance. What could cause this?
FAlpQLSfiOhfAvlhxzCSiUll_6rt-nU5b0WI73UmWOxkOw8OCwk01ng/formResponse B 1 2 Bb x Bb b 4 The fur in both parents in this cross is * 1 B B Bb x Bb b 3 4 brown black O homozygous dominant homozygous recessive 3. 近
In this case a family history revealed a genetic basis for the disorder. The pedigree is shown in Fig. 1 Below. Key Ø Female: affected Female: unaffected || IV V 5600 orize 077808 15 10 9 10 CHO વ Male: affected Male: unaffected Deceased Disease status not given Dizygotic twins Monozygotic twins Fig. 1 Disease pedigree. Five generations I, II, III, IV, V are shown. Females are represented by circles, males by squares, dizygotic (non-identical) twins by diagonal lines originating from the same point, Monozygotic (identical) twins by diagonal lines originating from the same point and joined symbols and deceased by a diagonal line through the symbol. Filled symbols indicate that the individual displays the disease phenotype. Unfilled symbols indicate that the individual does not display the disease phenotype. Carriers of the disease are not indicated. Information on disease status is not known for generation I and is omitted for the individuals represented by a symbol with an asterisk.…
A rara autosomal dominant disease is known to have 80% penetrance. If individual II1 has a child, what is the probability that this child will show the symptoms of this disease? II 20% 40% 50% 80% 0000
15 1 point What is the most likely mode of inheritance of the disease depicted in the following pedigree? ||| IV 1 autosomal dominant autosomal recessive 2 N 1 2 2 3 3 4 3 4 5 --D