Pedigree 4: A. What mode of inheritance supports the pattern of this disease in this family? Choose from: autosomal dominant or autosomal recessive. B. State the genotypes of individuals #1 - #4 for this mode of inheritance. C. Ifindividual #3 has another child with the same partner, what is the probability that this child will have the disease?
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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?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?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?Does the phenotype indicated by the red circles and squares in this pedigree show an inheritance pattern that is autosomal dominant, autosomal recessive, or X-linked?
- State whether each of the following genetic defects is inherited as an autosomal recessive, autosomal dominant, or X-linked recessive trait: phenylketonuria (PKU), sickle cell anemia, cystic fibrosis, Tay-Sachs disease, Huntingtons disease, and hemophilia A.People with trisomy 21 develop Down’s syndrome. What law of Mendelian inheritance is violated in this disease? What is the most likely way this occurs?1-Gigantism is being traced in a family through a pedigree. Its mode of inheritance is thought to be autosomal recessive. You examine the pedigree and decide that the mode of inheritance is not correct. What is the correct mode of inheritance? 2-Provide 2 pieces of evidence for the mode of inheritance selected for Gigantism. (i.e.- Individual 45 is afflicted and passed it on to all of her offspring, indicating that it is dominant. Or there is a gendered pattern of inheritance seen when Individual 99 passed it on to only his female offspring.)
- 11. Below is a pedigree chart of an autosomal recessive disorder. Answer the following questions using the correct genetic terminology (do not just write letters like “Ee”). A. What is the genotype of individual 1 in generation II? B: What is the genotype of individual 2 in generation I?C: Is it true that individuals 6, 7, 8, 9, and 10 in generation III all have the same genotype? Why or why not?Could someone please help me with this grade 11 bio dihybrid cross problem in detail and how to solve this question, using a strategy? Assume that curly hair (C) is dominant to straight hair. Albinism (P ) is recessive to normal skin pigmentation. A woman who is heterozygous for curly hair and albinism has a child. The father is homozygous dominant for curly hair and has albinism. (a) Determine the possible phenotypes for their child. (double-crossing, Puneet square)(b) Calculate the four different probabilities of a child beingboth a male and of each phenotype.(c) What is the probability that the child will expressalbinism and have curly hair like his father?polygenic trait mating 2 An AaBBCcdd male mates with an AaBbCCDD female. 1. What is the maximum number of ridge-producing genes possible in one of the children? 2. What would be the TRC for this child if it is a male? 3. What is the minimum number of ridge-producing genes possible in a child of this couple? 4. If this child were a female, would she have a higher or lower TRC than the parent with the lower ridge count? A. lower B. higher C. equal