1. 3 DTO O 오마 e. A male carrier PTO 0 이마 9 a. A female carrier b. A male who is affected with the given trait represented in the pedigree Consider the pedigree illustrated above (i.e., Figure D in the supplemental file). Individual I-1 can best be described as... c. A male who is not affected with the given trait represented in the pedigree d. A female who is affected with the given trait represented in the pedigree 10-13
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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. Should the parents be concerned about the heterozygous condition as well as the homozygous mutant condition?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?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?
- Clubfoot is a common congenital birth defect. This defect is caused by a number of genes but appears to be phenotypically distributed in a noncontinuous fashion. Geneticists use the threshold model to explain the occurrence of this defect. Explain this model. Explain predisposition to the defect in an individual who has a genotypic liability above the threshold versus an individual who has a liability below the threshold.O 999 O c. A male with a female sibling d. A female with an identical twin who is male 978 e. A female with a non-identical twin who is male 9 10-13 Consider the pedigree illustrated above (i.e., Figure D in the supplemental file). Individual III-8 can best be described as... a. A female with no siblings b. A male with an identical twin who is female 10Match the non-Mendelian genetic terms with their descriptor. Genetic and environmental factors collectively influence a phenotypic expression 1. Pleiotropy Two or more genes have a cumulative effect on a 2. Epitasis single phenotype 3. Polygenic Inheritance A single gene has more than one phenotypic effect 4. Multifactorial Effect A gene at one locus has an effect on a gene at another locus
- What type of heredity is shown in the pedigree? (hint: check your notes - "modes of inheritance") 3 Autosomal Dominant Sex-Linked Recessive Autosomal Recessive Sex-Linked Dominant Music off Zoom in 99 esc 26 & 1 2 3 4 5 6 7 8 detete Q w R T. Y P tab A S F K retu caps lock C V B N M shift command option control option command .. ..A. HUMAN PEDIGREE CASE ANALYSIS1. One couple has three children with the following sexes and ages: one son (40 y.o.) and two daughters (35 y.o. and 33 y.o.), all of them have normal pigmentation. Another couple has a son (35 y.o) and a daughter (20 y.o.) and all of them also have normal pigmentation. Both couples have normal pigmentation. The younger daughter from the first couple married the son of the second couple and they had three children. Their eldest daughter (5 y.o.) has normal pigmentation while their only son (3 y.o.) and one daughter (1 y.o.) have albinism. a. Draw the pedigree of this family. Follow protocols in making a pedigree. Provide the genotype of all individuals in the pedigree. Please provide also the gene notation. b. What is the mode of inheritance of this trait? c. Justify your answer in letter (b).d. For their normal daughter, what is the probability that she is a carrier? Show solution. e. If they will have a fourth child, what is the probability that the…N T L/ M LABORATORY EXERCISES IN GENETICS of inheritance, indicate how many children of each sex are expected to express the trait by filling in the appropriate circles and squares. a Autosomal recessive trait b. Autosomal dominant trait c. X-linked dominant trait grandfather is colorblind. All Rod's other grandparents have normal color vision. Rod has three sisters-Aida, Lorna, and Fe, all with normal color vision. Rod's oldest sister, Aida, is married to a man with normal color vision; they have two children, a colorblind boy and a girl with normal color vision. 5. Rod is colorblind. His mother and father have normal vision, but his maternal a. Using correct symbols, draw a pedigree of Rod's family. b. What is the most likely mode of inheritance for color blindness in Rod's family? c. If Rod marries a woman who has no family history of color blindness, what is the probability that their first child will be a colorblind male? 60
- 1 pts The pedigree below shows the expression of Huntington's disease in a family. Huntington's disease is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person's physical and mental abilities usually during their prime working years and has no cure. Huntington's is inherited as a dominant allele (H). Examine the pedigree below and determine the genotype for individual "2" DODO0O 2. O HH O Hh О h O either HH or HhV. Two Gene Pairs (Extra Credit) 1... A. In peas, the allele for tall plants (T) is dominant over the allele for short plants (t). The allele for smooth peas (S) is dominant over the allele for wrinkled peas (s). Use this information to cross the following parents. I 1. heterozygous tall and smooth X heterozygous tall and smooth 2. heterozygous tall, wrinkled X short, wrinkled AL.1. The pedigree chart in Figure 5.29 shows the inheritance of haemopiu family. Study the pattern of inheritance in the pedigree chart, and then answer the questions that follow. о 5 6. 3 8 9 10 11 Key Unaffected male Haemophiliac male О Unaffected female Fig. 5.29 Pedigree chart of a family affected by haemophilia a) What is the genotype and phenotype of individuals 2 and 4? b) (i) How many of the unaffected family members are definitely carriers of the recessive allele? (ii) How are you able to tell which of the family members are carriers? (4) (1) (3) c) (i) If Individual 11 marries a carrier female, what percentage of their sons is likely to be haemophiliacs? (1) (ii) Use a genetic diagram to show how you worked out your answer in i, (6) 2. Why is haemophilia never passed from father to son, even though it is most common in males? (4) 3. Can a mother pass on a sex-linked gene to her daughter? (1) 4. Sipho has red-green colour blindness. One of his grandfathers was also. colour…