Roberts Syndrome is an extremely rare genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs. Shown below is a pedigree for a family with Roberts Syndrome. What is the genotype of individual Il-C? (R = wild type; r = Roberts syndrome) %3D A C A D G II 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?Given the karyotype shown at right, is this a male or a female? Normal or abnormal? What would the phenotype of this individual be?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?
- Niemann Pick Type C disease is a recessive disorder that causes the accumulation of cholesterol and other lipids in lysosomes, ultimately affecting both the liver and the nervous system. Below are the genotypes and phenotypes of offspring of a family with a history of Niemann Pick. 7 NN ( all normal phenotype) 3 Nn (all normal phenotype) 4 nn (1 early onset dementia, 1 mid-life onset dementia, 2 late-onset dementia). From this information, Niemann-Pick disease is an example of: A) variable expressivity B) incomplete dominance C) incomplete penetrance D) variable expressivity and incomplete penetrance E) multiple allelesBelow is a pedigree chart for a family that has a history of Alkaptonuria. Individuals infected with this condition can have darkened skin, brown urine, and can suffer from joint damage and other complications. Given this pedigree answer the following questions. Given the data in the pedigree chart is this genetic condition autosomal dominant or autosomal recessive? What are the genotypes for #1, #2, and #3? If either of the 4th generation "aa" females were to mate with a homozygous dominant male would any of their offspring illustrate the phenotype? Why or why not?Refer to the pedigree below which shows inheritance for achondroplasia (dwarfism), a dominantly inherited trait (denoted as D), which are the darkened circles and squares. Dwarfism (darkened shapes) are dominantly inherited, while normal height is recessively inherited (hh). Based on the pedigree, what is the correct genotype for individual #II-6? Dominant Autosomal Pedigree 2 II 2 3 II 1 2 3 6 9 10 Dd DD DD or Dd dd
- Tuberous Sclerosis (TS) is an autosomal dominant genetic disease characterized by seizures, mental retardation, autism, and benign tumors of the brain, heart, skin, and kidneys. The kidney tumors can also be malignant. This disease exhibits a wide range of severity, and only about 1/3 of the cases are inherited. Two different genes have been tightly linked to the disease in families where it is inherited. The remaining 2/3 appear to be due to mutations in one of the 2 genes as well. Overall it appears that 1/2 are caused by mutations in TSC1 and the other half by mutations in TSC2. A rat model for hereditary renal carcinoma (kidney cancer) has been found. Southern and Northern blot analysis of the TSC1 and TSC2 gene revealed no differences between these rats and normal rats. Not all the rats in the strain would get cancer but a significant proportion did and those were selected for and used in experiments. 1. a) What was detected by the Southern blots? (look this up, make your…Use the following information to answer the next question. The shape of the fruit of summer squash plants is determined by the interaction of two genes. The genotypes and corresponding phenotypes for the shapes of summer squash are given below. a. DDee b. ddee In order to determine the genotype of a squash with disc-shaped fruit a plant breeder would cross the disc- shaped plant with which of the following? Select one: c. ddEE Genotype D_E_ D_ee, ddE_ ddee d. DDEE Phenotype disc-shaped fruit sphere-shaped fruit long-shaped fruitNeurofibromatosis-1 (NF1) is an autosomal dominant disorder where tumours form in the base layer of the skin or in nerve tissues. What is the probability that individuals II-1 and II-2 will have a genetic son with NF1? Find the image attached.
- Brachydactyly type D is human autosomal dominant condition in which the thumbs are abnormally short and broad. In most cases, both thumbs are affected, but occasionally just one thumb is involved. The pedigree above shows a family in which brachydactlyly type D is segregating. Filled circles and squares represent females and males who have involvement of both thumbs. Half-filled in symbols represent family members with just one thumb affected? (Picture attached) There is evidence of variable expressivity and incomplete penetrance in this family. Which individual is most likely nonpenetrant for the trait? A) III-11 B) IV-1 C) IV-5 D) III-10 E) II-4The pedigree below shows a family affected by a disease. Assume that the individuals marked with an asterisk (*) do not carry any allele associated with the affected phenotype, no other mutation spontaneously occurred, and complete penetrance. Answer the following questions below. Use the notation XR for the allele associated with the dominant phenotype and Xr for the allele associated with the recessive phenotype. Q1) Give the genotypes for as many individuals in the pedigree as possible.The pedigree shows inheritance of the autosomal recessive trait cystic fibrosis in a family. Family members who are known to have the disease are represented by black shading. I 1 2 3 4 II 1 3 4 6 8 7 III 1 2 3 4 5 6 7 Part A: Select the best answer from the boxes below to indicate the likely genotypes of the following individuals, where F indicates the wild-type (usual) allele and f indicates the cystic fibrosis allele. The first part of their number (I, II or III) indicates their generation or row, whilst the second part of their number (1-8) indicates the individual within that generation or row. |-4 Il-3 Il-8 III-3