Using the pedigree below for an autosomal dominant disorder to determine the phase (which ones are recombinants and which are non-recombinants? Identify them by pedigree position (11, 112, etc.) (SLO4) 11 III 2/2 2/2 1/2 1/1 2/2 2/2 2/2 2/2 1/2 2/2 1/2 2/2 1/2 2/2 Calculate the LOD score for each theta below for the pedigree above. Note: keep lots of places behind the decimal until the very end for accuracy. (SLO4)
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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 if the couple wanted prenatal testing so that a normal fetus could be aborted?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?
- Analysis of X-Linked Dominant and Recessive Traits As a genetic counselor investigating a genetic disorder in a family, you are able to collect a four-generation pedigree that details the inheritance of the disorder in question. Analyze the information in the pedigree to determine whether the trait is inherited as: a. autosomal dominant b. autosomal recessive c. X-linked dominant d. X-linked recessive e. Y-linkedAnn's family has a history of cystic fibrosis, a recessive genetic disease. In the pedigree, family members who are afflicted with the disease are shown in red. Members who are unafflicted may or may not be carriers. Which of the given family members can be identified definitively as unafflicted carriers of cystic fibrosis?Using the pedigree, assume that the disease is caused by an autosomal dominant allele, R. Give the genotype of the following individuals: (a) III-4 (the girl at lower right) (b) II-3 (the girl’s mother) (c) II-4 (the girl’s father)
- The pedigree shows individual 1 and 2Chands syndrome is an autosomal recessive condition characterized by very curly hair, underdeveloped nails, and abnormally shaped eyelids. In the pedigree below: Which individuals must be carriers (heterozygotes)? ----- Eva’s parents, John and Cher. Are both type AB. John questioned Cher’s fidelity when Eva turned out to be a type O. Assuming that Cher is indeed loyal to her husband, why did Eva turn out to be type O? Help Cher prove her innocence by showing the possible genotypes of John and Cher. Show also the COMPLETE cross that produced Eva.
- Given the following pedigree (note that C7C, M4C, N2X, H6C, G9X, J1C, B8X, and P2X are the names of animals): What pattern of Mendelian inheritance is represented in this pedigree and explain how you made this determination.(please refer to image attached)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?