All of the following human genetic diseases exhibit maternal inheritance EXCEPT: A. Leber's hereditary optic neuropathy B. Myoclonic epilepsy C. Kearnes-Sayre syndrome D. Edwards syndrome
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- Which of the following traits or diseases is(are) determined bynuclear genes?A. Snail coiling patternB. Prader-Willi syndromeC. Leber hereditary optic neuropathyDescribe and discuss the genetics of the following inherited disorders:A. Cystic FibrosisB. Sickle cell diseaseC. AchondroplasiaD. Huntington’s diseaseWhich of the following genetic diseases is/are inherited as an autosomal dominant trait: sickle cell anemia, hemophilia A, Huntington’s disease?
- In 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 patient has two parents with Huntington's disease. They may not have inherited this autosomal dominant disorder due to: 1) increased DNA repeats (CAG) during spermatogenesis O2) incomplete penetrance 3) inheriting one recessive alleleWhile studying of the family tree with history of hypertrichosis (hyper hirsutism of the ear) this sign was founded only in the men and it was inherited from father to the son. Define the type of hypertrichosis inheritance? Select one: a. Y-linked b. Autosomal-recessive O c. Autosomal-dominant d. Recessive, X-linked e. Dominant, X-linked
- Consider an autosomal recessive disease in which an individual must inherit two recessive alleles to display the disease phenotype. What is the probability that a woman who is a heterozygous for the trait and a man who is homozygous for the dominant allele will produce an offspring with the autosomal recessive phenotype? Assume no new mutations occur. Select one 1.) 100% 2.)25% 3.) 0% 4.)50% 5.) More information is neededIdentify the specific mode of inheritance. 1.) Mae is affected with the disease phenylketonuria (PKU). The PKU gene codes for the production of the enzyme that metabolizes phenylalanine. Nonfunctionality of this gene can lead to intellectual disability, seizures, and other serious medical problems. 2.) Duchenne muscular dystrophy results from the mutation of the dystrophin gene. While both sexes carry the mutation, females rarely exhibit signs of the disease.Cystic Fibrosis (CF) is an autosomal recessive condition. Therefore, heterozygous (Cc) carriers do not display symptoms. Two parents who are carriers plan to start a family and you are a genetic counselor helping to advise them about their chances of having children affected by CF. a) Suppose the couple has 4 children, each one year apart. What is the probability that all 4 children will inherit CF? b) What is the probability that any 3 of their 4 children will not inherit CF, but 1 will be affected? c) What is the probability that their first child will not inherit CF, but the younger 3 children will inherit CF?
- A couple contemplating a pregnancy are in today for an appointment at a genetic counselling clinic to identify and interpret their risk of an inherited disorder. The nurse explains during teaching that all the following are characteristic features of fragile X chromosome of a 3-year-old male child EXCEPT: a. Macroorchidism b. Autistic behavior c. Intellectual disability d. Characteristic facial features e. Hyperextensible finger jointsPhenylketonuria (PKU) is a human hereditary disease resulting from the inability of the body to process the chemical phenylalanine, which is contained in the protein we eat. PKU is manifest in early infancy and, if it remains untreated, generally leads to cognitive impairment. PKU is caused by a recessive allele with simple Mendelian inheritance. A couple intends to have children but consults a genetic counselor because the man has a sister with PKU and the woman has a brother with PKU. There are no other known cases in their families. They ask the genetic counselor to determine the probability that their first child will have PKU. What is this probability?Hereditary hemochromatosis is an autosomal recessive genetic disorder that causes the body to absorb too much iron from the diet. This excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs. A young couple, Bart and Jenny, are expecting a child and are aware there might be a chance that their child could be affected by this disorder. Jenny (the wife) has ichthyosis, but Bart (her husband) is unaffected and completely normal with respect to the allele responsible for this disorder. Both Bart and Jenny were Biology majors as undergraduates. Knowing a little about the pattern of X-linked recessive inheritance, Bart and Jenny were concerned when ultrasound revealed that they would be having a son. However, genetic testing performed on the baby shortly after birth revealed that their newborn son, Mark, did not…