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A particular monogenic trait has 5 different variants. Explain how you might determine the inheritance pattern for these variants.
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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.IA 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?Determining a karyotype is an important clinical method for diagnosing genetic disorders. Explain why it is useful for diagnosing monosomies and trisomies.
- 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…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..a. Mutations in gene “X” are responsible for breast cancer and can be inherited into the next progeny. In one such case, one affected male parent (a father) who had only one affected parent (can be either male or female) too came to a genetic counselor. Upon the testing recommended by the counselor, it has been found that that male parent’s child has a 50% risk of developing the cancer. Can you discuss the inheritance pattern of this disease for this male parent? In which Mendelian disorder, all the children of a mother (both of her alleles of a gene on X chromosome are pathogenic) could also be affected?
- There are six types of agglutinogen named C,D, E and c,d,e.the first three are dominant and last three are recessive.discussIn man, muscular dystrophy is a condition in which the muscles waste away during early life and may result in a shorter life expectancy. It is due to a sex-linked, recessive gene. A certain couple has five children – three boys (ages 1yr, 3yrs, and 10yrs old) and two girls (ages 5yrs and 7yrs old). The oldest boy shows the symptoms of this disease. You are their family physician and they come to you for advice. What would you tell them about the chances of their other children developing the disease?a. On the basis of this pedigree, what is the most likely mode of inheritance for the disease? Explain your reasoning. b. Based your answer to part a, give the most likely genotypes for all family members in the pedigree.
- Explain why familial breast cancer shows a dominant pattern of inheritance in a pedigree even though it is recessive at the cellular level.Familial 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?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?