Hemophilia is an X linked recessive condition. Awoman has a brother who is hemophiliac andwhile she does not have the condition she has abrother who has the condition. Hemophilia is dueto a mutation in a clotting factor. The exon intronstructure of a clotting factor gene is shown below.Exons are blue rectangles.You analyze the DNA of the woman and herbrother by PCR using primers which bind to theleft and right of exon 4. The results of the gel ofthe PCR products are shown below. The negativeend of the gel is at the top, the positive is at thebottom. Based on these results, what kind ofmutation does the brother have?Exon 1WomanThe brother is missing part or all of exon 4The brother has a single nucleotide change in exon 4The brother has an additional exon5Brother678

Hemophilia being an x linked recessive disease is a disease in which X chromosome is mutated. As…

ile she does not have the condition she has a other who has the condition. Hemophilia is due a mutation in a clotting factor. The exon intron ucture of a clotting factor gene is shown below. ons are blue rectangles. u analyze the DNA of the woman and her other by PCR using primers which bind to the t and right of exon 4. The results of the gel of e PCR products are shown below. The negative d of the gel is at the top, the positive is at the ttom. Based on these results, what kind of tation does the brother have? Exon 1 Woman he brother is missing part or all of exon 4 he brother has a single nucleotide change in exon 4 ne brother has an additional exon Brother

ile she does not have the condition she has a other who has the condition. Hemophilia is due a mutation in a clotting factor. The exon intron ucture of a clotting factor gene is shown below. ons are blue rectangles. u analyze the DNA of the woman and her other by PCR using primers which bind to the t and right of exon 4. The results of the gel of e PCR products are shown below. The negative d of the gel is at the top, the positive is at the ttom. Based on these results, what kind of tation does the brother have? Exon 1 Woman he brother is missing part or all of exon 4 he brother has a single nucleotide change in exon 4 ne brother has an additional exon Brother

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter11: Genome Alterations: Mutation And Epigenetics

Section: Chapter Questions

Problem 7QP

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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?
A couple comes to you, a genetics counselor, asking for you to explain to them their risk of having a child with cystic fibrosis. Cystic fibrosis is a recessive condition that impacts the lungs and the digestive system. The man, Julian, has a brother with the condition. He was tested for the gene, and he found out that he is a carrier (Ff), and his significant other, Gabby, is also a carrier (Ff). Use this information to answer the quesitons below. Identify the genotype of Julian. Homozygous recessive Homozygous dominat Heterozygous
A RFLP is discovered that is linked to the gene for Duchenne’s muscular dystrophy (DMD). DMD is an X-linked, recessive trait. The RFLP is 2 map units from the gene for DMD. Consider the following pedigree and Southern blot using a probe that hybridizes to the RFLP. Which band/s is/are associated with DMD? What is the genotype for individuals 3 and 4? (Remember, this is an X linked disease, so use X’s and Y’s to denote). Individual 9 married a man who does NOT have muscular dystrophy, and she is pregnant. DMD is an X-linked trait. What is the probability for their child to have DMD? An amniocentesis is performed and it is determined that 9’s child in utero has only a 10 kb band that hybridizes to the same probe used above. What can you say about the child now?
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Cystic fibrosis (CF) is an autosomal recessive condition triggered by the overproduction of sticky mucus that clogs the lungs and pancreas. It is a life-threatening disease, but medical advances helped the afflicted to live through adulthood. Betty's mother died from cystic fibrosis, but her father was normal and never had any relative with CF. Her fiancé, Jones, turned out to be a carrier of the CF allele. What are the genotypes of Betty and Jones? 1. Betty: ________________________ 2. Jones: _____________________ They planned to have four children. What is the probability that: 3. all children will be normal 4. at least two will be normal
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Cystic fibrosis (CF) is an autosomal recessive condition triggered by the overproduction of sticky mucus that clogs the lungs and pancreas. It is a life-threatening disease, but medical advances helped the afflicted to live through adulthood. The mother of Claudia died from cystic fibrosis, but her father was normal and never had any relative with CF. Her fiancé, Marcus, turned out to be a carrier of the CF allele. What are the genotypes of Claudia and Marcus? Claudia: ________________________ Marcus: _____________________ They planned to have four children. What is the probability that: a. all children will be normal b. at least two will be normal PLEASE SHOW COMPLETE SOLUTION
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