Tay Sach's disease results from a mutation in the hexosaminidase A gene. Heterozygotes are normal. This is an example of what type of genetic effect? lethal epistasis dominant lethal dominant epistasis recessive lethal recessive epistasis
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| lethal epistasis |
| dominant lethal |
| dominant epistasis |
| recessive lethal |
| recessive epistasis |
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- Among the following, which inheritance pattern increases the occurrence of the disease? Autosomal dominant Sex linked dominant Mitochondrial O Autosomal recessiveAcatalasemia is a rare autosomal recessive condition that results in no expression of the enzyme catalase; however, persons with this condition are usually only mildly affected. The enzyme catalase is found in most organisms and is a protection against oxidative damage, specifically breaking down the highly reactive oxygen species, hydrogen peroxide. Symptoms may include mouth ulcers that disappear with good dental hygiene; with poor dental hygiene, the ulcers can lead to gangrene in the mouth soft tissues. Persons with this condition usually do not know they are affected unless a family member is tested for the mutation. Dejah recently learned that her Uncle Malik had a dental surgery that was complicated by mouth ulcers and gangrenous tissue that had to be removed. The oral surgeon had learned about genetic conditions that affect oral hygiene and recognized that this could be acatalasemia, and ordered genetic testing. Uncle Malik was positive for this recessive condition, having…Ultraviolet light causes thymine dimers to form in DNA. Some individuals are genetically incapable of repairing these dimers at "normal" rates. Such individuals are likely to suffer from Oxeroderma pigmentosum phenylketonuria muscular dystrophy Severe Combined Immunodeficiency (SCID) pancreatic cancer
- Which of these describes the symptoms of the disease(s) caused by mutations in KMT2D ? Select all that apply. Papules Joint hypermobility Sleep disturbance Progeria Dental abnormalities ScoliosisIt is determined that Elsa is experiencing beta-thalassemia major. Which of the following statements is NOT true regarding this diagnosis? The cause of beta-thalassemia is genetic. Beta-thalassemia major is a grave condition and has a high mortality rate. Beta-thalassemia major is often treated with blood transfusions. Because beta-thalassemia is an x-linked trait, it affects males more often than females.Faulty 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…
- Tay–Sachs disease is a severe autosomal recessive genetic disease that produces deafness, blindness, seizures, and, eventually, death at 2 to 3 years of age. The disease results from a defect in the HEXA gene, which encodes hexosaminidase A. This enzyme normally degrades GM2 gangliosides. In the absence of hexosaminidase A, GM2 gangliosides accumulate in the brain. The results of molecular studies showed that the most common mutation causing Tay–Sachs disease is a 4-bp insertion that produces a downstream premature stop codon. Results of further studies have revealed that the transcription of the HEXA gene is normal in people who have Tay–Sachs disease, but the HEXA mRNA is unstable. Propose a mechanism to account for how a premature stop codon could cause mRNA instability.What is the genetic basis and phenotype for each of the following disorders (use proper genetic notation)? a. Edwards syndrome b. Patau syndrome c. Klinefelter syndrome d. Down syndromefor PCOS (polycystic ovarian syndrome) the GENE involved is (CYP19, CYP11a, CYP21, CYP17, ) what Effects of this altered gene product on the affected individual.
- Marfan syndrome is transmitted by a dominant gene.State the probability that a child with an affected parentwill have the disorderAchondroplasia is a form of dwarfism in humans. It is caused by a mutant allele of the fibroblast growth factor receptor 3 gene ( FGFR3) that produces an overactive protein. Having one copy of the mutant allele results in dwarfism. Two copies of the mutant allele results in death before birth. If a man with Achondroplasia marries a woman who is Sickle Cell Anemia carrier and they have a child together, what is the probability that their child will Achondroplasia AND be a Sickle Cell Anemia carrier? ½ 2/3 ¼ 1 ½ 1/16Alpha-1 antitrypsin has codominant inheritance. M genes express normal levels. S and Z genes have low expression. Which of the following is most likely to develop emphyema? A person with: 1) two M genes who does smoke 2) two S genes who does smoke 3) one M and one S gene who does not smoke 4) one M gene and one S gene who does smoke 5) two M genes who does not smoke 6) two S genes who does not smoke
