Concept explainers
Neurofibromas are tumors of the skin that can arise when a skin cell that is originally NF1+/NF1- loses the NF1+ allele. This wild-type allele encodes a functional protein (called a tumor suppressor), while the NF1- allele encodes a nonfunctional protein.
A patient of genotype NF1+/NF1- has 20 independent tumors in different areas of the skin. Samples are taken ofnormal, noncancerous cells from this patient, as well as of cells from each of the 20 tumors. Extracts of these samples are analyzed by a technique called gel electrophoresis that can detect variant forms of four different proteins (A, B, C, and D) all encoded by genes that lie on the same autosome as NF1. Each protein has a slow (S) and a fast (F) form that are encoded by different alleles (for example, AS and AF ). In the extract of normal tissue, slow and fast variants of all four proteins are found. In the extracts of the tumors, 12 had only the fast variants of proteins A and D but both the fast and slow variants of proteins B and C; 6 had only the fast variant of protein A but both the fast and slow variants of proteins B, C, and D; and the remaining 2 tumor extracts had only the fast variant of protein A, only the slow variant of protein B, the fast and slow variants of protein C, and only the fast variant of protein D.
a. | What kind of genetic event described in this chapter could cause all 20 tumors, assuming that all the tumors are produced by the same mechanism? |
b. | Draw a genetic map describing these data, assuming that this small sample represents all the types of tumors that could be formed by the same mechanism in this patient. Show which alleles of which genes lie on the two homologous chromosomes. Indicate all relative distances that can be estimated. Note that NF1 is one of the genes you can map in this way. |
c. | Another mechanism that can lead to neurofibromas in this patient is a mitotic error producing cells with 45 rather than the normal 46 chromosomes. How can this mechanism cause tumors? How do you know, just from the results described, that none of these 20 tumors is formed by such mitotic errors? |
d. | Can you think of any other type of error that could produce the results described? |
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Genetics: From Genes to Genomes
- Six months pregnant, an expectant mother had a routine ultrasound that showed that the limbs of the fetus were unusually short. Her physician suspected that the baby might have a genetic form of dwarfism called achondroplasia, an autosomal dominant trait occurring with a frequency of about 1 in 27,000 births. The parents were directed to a genetic counselor to discuss this diagnosis. In the conference, they learned that achondroplasia is caused by a mutant allele. Sometimes it is passed from one generation to another, but in 80 percent of all cases it is the result of a spontaneous mutation that arises in a gamete of one of the parents. They also learned that most children with achondroplasia have normal intelligence and a normal life span. 1. What information would be most relevant to concluding which of the two mutation origins, inherited or new, most likely pertains in this case? How does this conclusion impact on this couple’s decision to have more children? 2. It has been…arrow_forwardWhat the grandparents' genotypes are? Why doesn’t the father (II-1) have the disease breast cancer? What is the formal name for an individual having the gene but not showing the trait? For this particular family, what is the recombination rate between the D17S74 marker and the breast cancer gene?arrow_forwardBased on the figure below: If children with hereditary retinoblastoma often survive until adulthood and produce children, what is their risk of developing other types of tumors later in life? What is a risk for their children of developing retinoblastoma? Is there the tendency to develop retinoblastoma inherited as a dominant trait or as a recessive trait? Is there one mutant copy sufficient to predispose a person to develop the cancer or two copies are needed to develop retinoblastoma as a cancer?arrow_forward
- Achondroplasia is a form of dwarfism in humans. It is caused by a mutant allele of the fibroblast growth factor receptor 3 gene ( FGFR3) that produces an overactive protein. Having one copy of the mutant allele results in dwarfism. Two copies of the mutant allele results in death before birth. If a man with Achondroplasia marries a woman who is Sickle Cell Anemia carrier and they have a child together, what is the probability that their child will Achondroplasia AND be a Sickle Cell Anemia carrier? ½ 2/3 ¼ 1 ½ 1/16arrow_forwardFamilial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?arrow_forwardThe gene controlling ABO blood type and the gene underlying nail-patella syndrome are said to show linkage. What does that mean in terms of their relative locations in the genome? What does it mean in terms of how the two traits are inherited with respect to each other?arrow_forward
- The cystic fibrosis gene encodes a chloride channel protein necessary for normal cellular functions. Let us assume that if at least 5% normal channels are present, the affected individual has mild symptoms of cystic fibrosis. Having less than 5% normal channels produces severe symptoms. At least 50% of the channels must be expressed for the individual to be phenotypically normal. This gene has various mutant recessive alleles: Predict the percent of functional channels and severity of symptoms for the following genotypes: a. heterozygous for CF100 b. homozygous for CF100 c. heterozygous, with one copy of CF100 and one of CF3 d. heterozygous, with one copy of CF1 and one copy of CF3arrow_forwardA 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?arrow_forwardA 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?arrow_forward
- 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?arrow_forwardIn a particular country in sub-Saharan Africa, a medical study revealed that 0.075% of the country's population are suffering from sickle-cell anemia. Sickle cell disease is caused by a mutation in the haemoglobin-Beta gene found on chromosome 11. Sickle cell anemia is controlled by a pair of alleles, H and h, where the individuals with the illness have the homozygous recessive genotype; those with normal red blood cells have the alternative genotype. Using the Hardy-Weinberg's equation, calculate the percentage of the population of the two genotypes for normal blood cells. In a few remote areas in that country, the percentage of sickle cell anemia reaches as high as 5%. Calculate the percentage of homozygous and heterozygous individuals with the normal blood cells and find the ratio for both phenotypes.arrow_forwardColorblindness and hemophilia are both X-linked traits in humans. Explain how a female who has a defective color vision gene on one X chromosome and a defective blood clotting gene causing hemophilia on the other X chromosome can be neither a hemophiliac nor colorblind? Please discuss the effect of Gene dosage compensation in your answer and in your answer describe the molecular process by which this occurs.arrow_forward
- Human Heredity: Principles and Issues (MindTap Co...BiologyISBN:9781305251052Author:Michael CummingsPublisher:Cengage Learning