1. The pedigree below is for a rare but relatively mild hereditary disorder of the skin. How is the disorder inherited? Give reasons for your answer. I a. b. Give genotypes for as many individuals in the pedigree as possible. C. Consider the four unaffected children in Gen IV of parents III-4 and III-5; what is th probability that the parents III-4 and III-5 would have 4 unaffected children? OT

1. The pedigree below is for a rare but relatively mild hereditary disorder of the skin. How is the disorder inherited? Give reasons for your answer. I a. b. Give genotypes for as many individuals in the pedigree as possible. C. Consider the four unaffected children in Gen IV of parents III-4 and III-5; what is th probability that the parents III-4 and III-5 would have 4 unaffected children? OT

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Description: can you help with question 1 plz. thank you! 1. The pedigree below is for a rare but relatively mild hereditary disorder of the skin.How is the disorder inherited? Give reasons for your answer.Give genotypes for as many individuals in the pedigree as

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter10: From Proteins To Phenotypes

Section: Chapter Questions

Problem 3CS: A couple was referred for genetic counseling because they wanted to know the chances of having 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?
1. The pedigree below shows the incidence of rare, autosomal dominant disorder called Ehlers-Danlos disease. The pedigree covers three generations of a particular family and also shows individual genotypes at a potential marker locus (M). a) Indicate the phase of all gen II and III individuals. DdM1M3 ddM2M6 II DDM3M6 ddM4M5 III DdMзM4 DdMЗМ5 DDM3M4 ddM3M5 DDM3M4 ddM5M6 DDM3M4 ddM4M6 ddM5M6 ddM5M6 b) Which, if any, of the gen III individuals are recombinants? c) Calculate the LOD score as a test of physical linkage between the marker (M) and the disease locus. d) What do you conclude about linkage between D and M?
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) X- linked dominant and b) X-linked recessive in order to determine what is the mode of transmission of this trait. Disease allele = XA or Xª, depending on mode of transmission of the disease respectively. *Unaffected/No carrier-Normal Unaffected X chromosome = X I || III 1 1 2 a) X-linked recessive 9 III 6 genotype (circle one): XX * 1 2 3 11x12 4 ΧΑΧΑ 2 5 xaxa *4 6 7 8 b) X-linked dominant 11 x 12 오 XAX хах
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.…
Please consider the pedigree below. There are no cases of false paternity. I II III IV в 1 a. Which individual/s definitely has/have Bombay phenotype in the descendants of I-1 and I-2? b. What are the genotypes of individuals II-2 and III-2 at the AB0 and H loci? Please label your answers a and b, Il-2: and Ill-2:.
Consider the following pedigree. 하 3 10 (5 3 2 (a) What pattern of transmission is most consistent with this pedigree? (1) autosomal recessive, (2) autosomal dominant, (3) X-linked recessive, (4) X-linked dominant. (b) If individual V-2 marries a normal individual, and if the condition has a pene-trance of 85 percent, what is the probability that their second child will express the trait? (c) On the third line, what does the diamond with a 10 in the middle mean?
1. The figure below represents a karyotype performed on a somatic cell of an unknown organism. Answer the following questions using the figure. a. Circle (and label) 3 different sets of homologous chromosomes? b. This individual is heterozygote for gene A (Aa), Homozygote recessive for gene B (bb) and gene homozygote dominant for gene c (CC). Also, gene B and gene C are linked. Using the homologous chromosomes you circled in part a), provide a representation of the location of the A, B and C, genes and alleles on the homologous chromosomes and sister chromatids in such a way that is consistent with the scenario described above in part b). Choose the chromosomes of your liking to show an appropriate representation. TMIID IL MI
a. How many generations are presented in this pedigree? b. What are the most probable genotype of III-3, IlI-5, and III-8? c. What is the probability that II- 1 and Il-2 will have another normal offspring? Show punnet square and explain your answer. d. Who among the individuals are affected?
9. Make a pedigree for each of the following situations. For each individual, write the individual's genotype (when possible) next to the individual's symbol (e.g. O xty, I Gg): a. Two parents do not have cystic fibrosis and they have a daughter with cystic fibrosis and a son who does not have cystic fibrosis. The daughter grows up and she mates with a male who does not have cystic fibrosis. Their only child is a boy and he has cystic fibrosis. b. A man with hemophilia mates with a female without hemophilia. They have one son and one daughter. The daughter has hemophilia and the son does not have hemophilia. The son grows up, and he marries and mates with a female. Their only child is a boy, and he has hemophilia.
1. In the pedigree below, Use "A" for the allele associated with the dominant phenotype, and lowercase "a" for the allele associated with the recessive phenotype. Determine what is the most likely mode of inheritance of this disease (whether it is inherited as the result of an autosomal dominant or autosomal recessive trait). Write the most probable genotype for each individual based on the mode of inheritance you have determined. Show how all the partners are crossed and the expected offspring produced (You may use Punnett Square) 1 dró || IV