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Genetic testing for human hereditary conditions for identification of heterozygous carriers.
Introduction:
Genetic testing for the heterozygous carrier is a practice of detecting the people for the possibility of conceiving progenies affected by recessive diseases. The recessive inheritance is characterized by one having the disease receiving two mutated copies of alleles- one from the mother and another from the father. The heterozygotes for the disease generally are carriers for the disease. The genetic testing of human hereditary conditions for identification of heterozygous carriers helps a couple before conception to decide the possible preventive measures, genetic diagnosis, or early prenatal diagnostic testing.
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Chapter 2 Solutions
Genetic Analysis: An Integrated Approach (3rd Edition)
- Huntington disease (HD) is a genetic disorder that usually first appears in middle age and, over time, leads to involuntary movements, impaired speech, difficulty swallowing and speaking, and cognitive decline. There is no cure for HD, and affected individuals eventually die, usually after 10 to 15 years of progressively worsening symptoms. Huntington disease is inherited as an autosomal dominant disorder. Presymptomatic genetic testing for HD is available for people with a family history of the disease. Individuals who have a parent with HD have a 50% chance of inheriting the HD gene and eventually having HD. Some of these individuals want to know if they will eventually get the disease, and they undergo presymptomatic genetic testing. Others do not want to know, given that there is no cure or effective treatment for the disease. If you were at risk for HD, would you want to undergo genetic testing? What are some reasons for and against having a genetic test for HD?arrow_forwardPlease help me with this question within an hour immediatelyarrow_forwardMatch the following terms with their correct definitions. A change in a gene that causes it to produce no protein. A loss-of-funtion in one allele that is uominant because the wild type allele alone does not produce enough protein to serve its typical role. 1. Loss-of-function mutation 2. Null mutation 3. Gain-of-function mutation A change in a gene that causes it to produce less protein or protein that is not able to serve its typical role. 4. Haploinsufficiency A change in a gene that causes it to produce increased protein or protein that takes on a new role.arrow_forward
- In a paternity suit, a woman with type O blood claims that a man with type AB blood is the father of her type O baby. List the genetypes of the mom, man, and baby. Can the woman prove he is the father or can he is not? Why or why not? If the accused man was type A insyead of type AB, what would be his possible genotypes? Could the woman prove he is the father? Can the man prove he is not the father? Why or why not?arrow_forwardHemophilia is inherited as a sex-linked recessive trait. A non-hemophilic man marries a non-hemophilic woman whose father had hemophilia. With respect to this information, indicate all possible genotypes their children could possibly have. Show ALL work using punnett squares.arrow_forwardTuberous 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…arrow_forward
- Write and discuss about the analysis procedure used for carrier screening for the single-gene diseases that is routinely conducted in different countries. (Subject: Genetic engineering).arrow_forwardPlease find an Image/Graphic to represent sickle cell disease: Use at least two different images to help the audience understand the cause and/or inheritance pattern of the disorder you chose. Include a brief 1-2 sentence caption below each image that gives a description of the image and explains its relevance to your chosen disorder. The two images should NOT convey the same exact information. Ideas of images to use include: karyotypes, pedigrees, DNA sequences, etc. Please note: the images should be specific to your chosen disorder. The 2 required images must be related to cause and/or inheritance pattern. Images of an individual with the disorder will not count toward your 2 required images as they do not contribute to the audience's understanding of cause and/or inheritance pattern.arrow_forwardA homozygous recessive allele, aa, is responsible for albinism. Humans can exhibit this phenotype. In each of the following cases, determine the possible genotypes of the mother and father, and of their children: (a) Both parents have normal phenotypes; some of their children are albino and others are unaffected: (b) Both parents are albino and have only albino children: (c) The woman is unaffected, the man is albino, and they have one albino child and three unaffected children: at a busy hospital. The son of the first couple has hemophilia, a recessive, X-linked Two mothers give birth to sor disease. Neither parent from couple #1 has the disease. The second couple has an unaffected son, despite the fact that the father has hemophilia. The two couples challenge the hospital in court, claiming their babies must have beer swapped at birth. You must advise as to whether or not the sons could have been swapped. What would you say? 5. In a dispute over parentage, the mother of a child with…arrow_forward
- Gaucher disease is an early onset rare autosomal recessively inherited lysosomal storage disorder (LSD). An adult woman who has no symptoms but has two affected brothers is referred for genetic counselling. Which of the following is correct? Oa. Before any carrier testing is carried out the woman can be correctly informed that the probability that her first son will be affected is 1 in 4. b. With two affected brothers the probability of her being a carrier is 1. Oc. If she is a carrier then the probability that each of her sons and each of her daughters will be affected is 1 in 4. d. The probability that she is a carrier is 1/2 Oe. The probability that she is a carrier is 2/3.arrow_forwardPedigree 1: What is the most likely mode of inheritance of this disease given its pattern on the pedigree? Autosomal Dominant Autosomal Recessive O X-Linked Dominant O X-Linked Recessivearrow_forwardOver a thousand different alleles at the CFTR locus have been discovered that can cause cystic fibrosis. What difficulties might the presence of so many different alleles at this locus create for the diagnosis and treatment of cystic fibrosis?arrow_forward
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