Mohamed is a carrier for diastrophic dysplasia, which is inherited in an autosomal recessive manner. Mohamed also has a mutation in one copy of his APC gene. Mutations in the APC gene predispose a person to colon cancer, and colon cancer is inherited in an autosomal dominant manner. His chromosome 5 pair looks like this: SLC26A2 АРС d Chromosome 5 inherited from his father D Chromosome 5 inherited from his mother Recombination or crossing-over between the SLC26A2 gene and the APC gene occurs 10% of the time. What is the probability of Mohamed producing a DQ gamete (sperm)?
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a) 5%
b) 45%
c) 90%
d) 10%
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- Achondroplasia is an autosomal dominant disorder characterized by disproportionate short stature: the legs and arms of people with achondroplasia are short compared with the head and trunk. The disorder is due to a base substitution in the gene, located on the short arm of chromosome 4, that encodes fibroblast growth factor receptor 3 (FGFR3). Although achondroplasia is clearly inherited as an autosomal dominant trait, more than 80% of the people who have achondroplasia are born to parents with normal stature. This high percentage indicates that most cases are caused by newly arising mutations; these cases (not inherited from an affected parent) are referred to as sporadic. Studies have demonstrated that sporadic cases of achondroplasia are almost always caused by mutations inherited from the father (paternal mutations). In addition, the occurrence of achondroplasia is higher among the children of older fathers; approximately 50% of children with achondroplasia are born to fathers…In retinoblastoma, a mutation in one allele of the RB1 tumorsuppressorgene can be inherited from the germ line, causingan autosomal dominant predisposition to the developmentof eye tumors. To develop tumors, a somatic mutation in thesecond copy of the RB1 gene is necessary, indicating that themutation itself acts as a recessive trait. Given that the firstmutation can be inherited, in what ways can a second mutationalevent occur?Genetic Inheritance Patterms Retinitis pigmnentosa (RP) can be autosomal recessive, autosomal dominant, or x-linked. Apparently the dominant forms are often less severe. Eric's form of RP is Usher's Syndrome, which is an autosomal recessive inheritance (i.e., you must get a copy of the defective gene from your Mom and one from your Dad). Autosomal means it is not carried on one of the chromosomes that determines sex. Usher's Type II is recessive, so for Eric this means that both his Mom and Dad are carriers of this condition. His brother, Dirk, does not have any symptoms of RP. Question below - short answer approach Imagine you are a genetics counselor, and Dirk, Erik's brother, comes in to see you. Based on his parents, what are Dirk's possible genotypes for RP? What advice would you give Dirk about the chances of Dirk's children having retinitis pigmentosa if his wife is not a carrier? How would your advice change if his wife fully has the disease? Describe all the possibilities,…
- A female patient 19 years old, whose symptoms areanemia and internal bleeding due to a massive buildupof leukemic white blood cells, is diagnosed withchronic myelogenous leukemia (CML). Karyotypeanalysis shows that the leukemic cells of this patientare heterozygous for a reciprocal translocation involving chromosomes 9 and 22. However, none of thenormal, nonleukemic cells of this patient contain thetranslocation. Which of the following statements istrue and which is false?a. The translocation results in the inactivation (loss offunction) of a tumor-suppressor gene.b. The translocation results in the inactivation (loss offunction) of an oncogene.c. There is a 50% chance that any child of this patientwill have CML.d. This patient is a somatic mosaic in terms of thekaryotype.e. DNA extracted from leukemic cells of this patient,if taken up by normal mouse tissue culture cells,could potentially transform the mouse cells intocells capable of causing tumors.f. The normal function of the…PART 3– Sex Linkage Hemophilia is a recessive sex-linked disorder in which an important clotting factor protein (Factor VIII) is not produced in a functional form. Queen Victoria was a carrier of the recessive Factor VIII allele, meaning she carried the allele but was asymptomatic. Recently, historians have discovered that she secretly had an affair with the Austrian Count Chocula, who, unbeknownst to her, was a hemophiliac. Naturally, the Royal Family fought to have this information suppressed, but it was revealed that they had many children together. 1. Using the correct allele notation, write the genotypes for Queen Victoria and Count Chocula. 2. In the Punnett Square below, show the cross between the Queen and the Count. P> PĮIn individuals affected by cystic fibrosis, salt crystals may appear afterperspiration dries up. In addition, the disease causes respiratory disorderswhich can be both debilitating and lethal. It occurs in individuals homozygousfor the recessive gene. Two normal parents had a daughter with thesymptoms of this disease, and a normal son who marries a normal womanwith an afflicted A test (salt concentration in perspiration of heterozygotes ishigher than normal) disclosed that both are indeed carriers of the gene. If thefirst child born to the mating in (b) was defective, what is the probability thatthe 2nd child would also be defective?Express answer in fraction form
- The propensity to develop retinal cancer can run in pedigrees of certain families. You have learned about the role of the retinoblastoma (Rb) protein in the cell cycle. A heterozygous individual (genotype = Rbm / Rb+) that inherits a mutant allele of the Rb gene (Rbm) as well as a normal allele of the Rb gene (Rb+) is at significant risk for developing cancer of the retina. The best explanation for this is that… A. the Rb(m) allele is dominant to the Rb(+) allele. B. a mutation in the Rb(+) allele can result in a Rb(m) / Rb(m) genotype in certain cells. C. the retina is frequently exposed to UV rays D. the Rb(m) allele directly converts the Rb(+) allele to another Rb(m) allele. E. the cells of the retina carry more than two copies of the Rb geneThe following pedigree illustrates the inheritance of Nance–Horan syndrome, a rare genetic condition in which affected people have cataracts and abnormally shaped teeth.The pedigree here shows the inheritance of a human disease knownas familial hypercholesterolemia. This disorder is characterized by an elevated level of serumcholesterol in the blood. Though relatively rare, this geneticabnormality can be a contributing factor to heart attacks. At themolecular level, this disease is caused by a defective gene thatencodes a protein called low-density lipoprotein receptor (LDLR).In the bloodstream, serum cholesterol is bound to a carrier proteinknown as low-density lipoprotein (LDL). LDL binds to LDLR,which enables cells to absorb cholesterol. When LDLR is defective,it becomes more difficult for the cells to absorb cholesterol. Thisexplains why the blood level of cholesterol remains high. Basedon the pedigree, what is the most likely pattern of inheritance ofthis disorder?
- Cystic fibrosis (CF) is an autosomal recessive condition triggered by the overproduction of stickymucus that clogs the lungs and pancreas. It is a life-threatening disease, but medical advances helpedthe afflicted to live through adulthood.The mother of Claudia died from cystic fibrosis, but her father was normal and never had anyrelative 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 normalCystic fibrosis (CF) is an autosomal recessive condition triggered by the overproduction of stickymucus that clogs the lungs and pancreas. It is a life-threatening disease, but medical advances helpedthe afflicted to live through adulthood. The mother of Claudia died from cystic fibrosis, but her father was normal and never had anyrelative 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 normalFaulty Tooth Enamel Formation Amelogenesis imperfecta (AI) is a disorder of faulty tooth enamel formation. It is inherited in an autosomal dominant and X-linked dominant pattern. The expression of AI disorder is determined by mutations in the autosomal alleles. One copy of the mutated allele (A) will cause the disorder. The severity of the disorder is determined by mutations in a gene carried on the X chromosome. Normal (or non-severe) abnormality (XN) is dominant over the abnormality (or severe) (Xn) allele. In the absence of the autosomal dominant allele, the abnormality gene on the X chromosome is notexpressed. Question:A woman with normal teeth had four children with a man with non-severe form of AI: A boy was born without amelogenesis imperfecta A girl was born without amelogenesis imperfecta A boy was born with severe amelogenesis imperfecta A boy was born with non severe amelogenesis imperfecta Identify the parental genotypes. Complete the Punnett square for the parental…