A married couple makes an appointment to speak with you. Both have a genetic disorder, but they already have one child who does not have the disorder. They would like to have more children and were told by a friend that since their first child was normal their future children would be normal as well. Explain to them the probability of future offspring being normal or having the disease (assume that this is an autosomal disease). Be sure to tell them whether the disease is brought about by a dominant or recessive allele
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Imagine you are working as a genetic counselor. A married couple makes an appointment to speak with you. Both have a genetic disorder, but they already have one child who does not have the disorder. They would like to have more children and were told by a friend that since their first child was normal their future children would be normal as well.
Explain to them the probability of future offspring being normal or having the disease (assume that this is an autosomal disease). Be sure to tell them whether the disease is brought about by a dominant or recessive allele and what fraction of their children (if any) could be carriers for the disease.
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- A couple has had a child born with neurofibromatosis. They come to your genetic counseling office for help. After taking an extensive family history, you determine that there is no history of this disease on either side of the family. The couple wants to have another child and wants to be advised about the risks of that child having neurofibromatosis. What advice do you give them?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?
- Imagine you are working as a genetic counselor. A married couple makes an appointment to speak with you. Both have a genetic disorder, but they already have one child who does not have the disorder. They would like to have more children and were told by a friend that since their first child was normal their future children would be normal as well.Explain to them the probability of future offspring being normal or having the disease (assume that this is an autosomal disease). Be sure to tell them whether the disease is brought about by a dominant or recessive allele and what fraction of their children (if any) could be carriers for the disease.IImagine you are working as a genetic counselor. A married couple makes an appointment to speak with you. Both have a genetic disorder, but they already have one child who does not have the disorder. They would like to have more children and were told by a friend that since their first child was normal their future children would be normal as well.Unit 6 DQ Question: Explain to them the probability of future offspring being normal or having the disease (assume that this is an autosomal disease). Be sure to tell them whether the disease is brought about by a dominant or recessive allele and what fraction of their children (if any) could be carriers for the diseaseYou met with two parents whose first child has sickle cell anemia. (The parents show no signs of the disease themselves). The mother comes to you in the third month of her second pregnancy, and wants to know if this child will also inherit the disease. As a genetics counselor, you are ready to evaluate this couple’s case by doing the following:1. Determine what the genotype of each parent is. Is this disease autosomal or sex-linked? Dominant or recessive?
- You are discussing the genetic pedigree of a client with a history of autosomal dominant disease in his family. You explain that while a recessive mutation requires both copies of the gene to be mutated in order to cause clinical disease, an autosomal dominant mutation can cause disease when only one copy of the gene is affected. Describe the different mechanisms by which dominance occurs, giving examples of each.Please help me with the following question: Von Willebrand disease is an inherited bleeding disorder. People with von Willebrand disease take a much longer period for blood to clot/stop than others. von Willebrand disease is either inherited in an autosomal dominant pattern or in an autosomal recessive pattern. Question: what is the genotype of the disorder? what are the phenotypic effects of the disorder? What is happening with the DNA to cause the phenotypic effects?A young lady requested pre-marital genetic counselling because her sister had died in infancy of gangliosidosis, an autosomal recessive disease. What is the risk that this young lady has similarly affected offspring? What advice should be given?
- 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…A 20-year-old woman comes to your genetic counselling center because she knows that Huntington disease occurs in members of her family. Huntington is an autosomal dominant disease that often becomes apparent around 35–40 years of age. Her paternal grandfather was afflicted, but so far her 41 year old father shows no symptoms. Her two great-great grandmothers on her father's side were healthy well into their 90s, and one of her great-great grandfathers died of unknown causes at 45. Testing for Huntington disease is extremely expensive, but she is concerned that she may fall victim to this disease and wants to plan her life accordingly. After examining her pedigree you advise her to: not get tested because her father is only a carrier and it is very unlikely her mother is a carrier. not get tested because there is no possibility that she is homozygous. get tested because her father could be a carrier. not get tested because only males in her family get the disease. not get tested…Both have a genetic disorder, but they already have one child who does not have the disorder. They would like to have more children and were told by a friend that since their first child was normal their future children would be normal as well. Explain to them the probability of future offspring being normal or having the disease (assume that this is an autosomal disease). Be sure to tell them whether the disease is brought about by a dominant or recessive allele and what fraction of their children (if any) could be carriers for the disease.