BB AB AB ВВ A. None B.3 0с.1 OD.2 AB OE. The father AB AB in the pedigree presented above, an autosomal dominant disease which causes significant visual loss and eventual blindness, is segregating in the family. The disease gene causing this sight loss looks as if it may be linked to a marker locus. The alleles of this marker locus that are present in this family are allele A and allele B. Are there any recombinant individuals in this pedigree? ВВ ВВ AB ВВ AB AB ВВ

BB AB AB ВВ A. None B.3 0с.1 OD.2 AB OE. The father AB AB in the pedigree presented above, an autosomal dominant disease which causes significant visual loss and eventual blindness, is segregating in the family. The disease gene causing this sight loss looks as if it may be linked to a marker locus. The alleles of this marker locus that are present in this family are allele A and allele B. Are there any recombinant individuals in this pedigree? ВВ ВВ AB ВВ AB AB ВВ

Name: BB AB ABA. NoneB.3с.1D.2ВВOE. The fatherABIn the pedigree presented a
Uploaded: 2024-03-20T06:42:55.000Z
Channel: Bartleby
Description: BB AB ABA. NoneB.3с.1D.2ВВOE. The fatherABIn the pedigree presented above, an autosomal dominant disease which causes significant visual loss and eventual blindness, issegregating in the family. The disease gene causing this sight loss looks as if i

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...

See similar textbooks

Similar questions

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?
а. What type of inheritance is shown in the pedigree? II 2 II 1 2 4 IV Identify the genotypes of the following individuals: III- 2 b. |-1 Il- 2 III-4 IV-1 + v Paragraph В I
The XG locus on the human X chromosome has twoalleles, XG+ and XG. The XG+ allele causes the presence of the Xg surface antigen on red blood cells,while the recessive XG allele does not allow antigento appear. The XG locus is 10 m.u. from the STSlocus. The STS+ allele produces normal activity ofthe enzyme steroid sulfatase, while the recessive STSallele results in the lack of steroid sulfatase activityand the disease ichthyosis (scaly skin). A man withichthyosis and no Xg antigen has a normal daughterwith Xg antigen. This daughter is expecting a child.a. If the child is a son, what is the probability he willlack Xg antigen and have ichthyosis?b. What is the probability that a son would have boththe antigen and ichthyosis?c. If the child is a son with ichthyosis, what is theprobability he will have Xg antigen?
Pedigree 2: 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 If individual #3 has another daughter with the same partner, what is the probability that this daughter will be affected (show the disease)?
II. Given the following pedigree below, use Punnett squares for each of the following possibilities: a) Autosomal recessive and b) Autosomal dominant in order to determine what is the mode of transmission of this trait. Disease allele = a or A, depending on mode of transmission of the disease respectively. Your Punnett squares should reflect what you see in generation II. Circle the mode of transmission. Note: Observe the whole pedigree. I Circle the mode of transmission 1 III 6 genotype (circle one): AA Created by Dr. Susan A. Holechek for BIO 340 (2023) 2 1 2 3 4 a) Autosomal recessive 11 x 12 9 XªXa 2 3 5 6 Ở хаха *4 7 b) Autosomal dominant 11x12 8 Aa *Unaffected/No carrier-Normal AaAa
In individuals affected by cystic fibrosis, salt crystals may appear afterperspiration dries up. In addition, the disease causes respiratory disorderswhich can be both debilitating and lethal. It occurs in individuals homozygousfor the recessive gene. Two normal parents had a daughter with thesymptoms of this disease, and a normal son who marries a normal womanwith an afflicted A test (salt concentration in perspiration of heterozygotes ishigher than normal) disclosed that both are indeed carriers of the gene. If thefirst child born to the mating in (b) was defective, what is the probability thatthe 2nd child would also be defective?Express answer in fraction form
Many genetic disorders exhibit locus heterogeneity. Define andgive two examples of locus heterogeneity. How does locus heterogeneityconfound a pedigree analysis?
Complete the following queatione BEFORE ATTEMPTING THE HW 1 BLACKBOARD ASSIGNMENT, In the following human pedigrees, the filled symbols represnent the affected individuals who suffer from the disease. Use A/a to represent alleles for autosomal traits and XIX/Ytorepresent alleles for X-linked traits. Use the uppercase letter to represent the dominant allele and the lowercase letterto represent the receasive allele. afected fomale Unafected female affected male Unaffected male Pedigree 1: 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-#3. C. What is the probability that individual #4 is a carrier of this disease if his mother is homozygous dominant and his father is heterozygous? Pedigree 2: What is the most likely mode of inhentance of this disease? Choose from: autosomal dominant, autosomal recessive X-linked dominant X-linked recessive.…
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. 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?