Medical Genetics Complete Test Bank |Quetions and Correct Answers.

Table of Contents Multiple Choice Questions: Chapter 1: Background and History ................................................................................... 3 Chapter 2: Basic Cell Biology: Structure and Function of Genes and Chromosomes ....... 5 Chapter 3: Genetic Variation: Its Origin and Detection ..................................................... 7 Chapter 4: Autosomal Dominant and Recessive Inheritance ............................................. 9 Chapter 5: Sex-linked and Nontraditional Modes of Inheritance ..................................... 12 Chapter 6: Clinical Cytogenetics: The Chromosomal Basis of Human Disease .............. 14 Chapter 7: Biochemical Genetics: Disorders of Metabolism ........................................... 16 Chapter 8: Gene Mapping and Identification.................................................................... 21 Chapter 9: Immunogenetics.............................................................................................. 27 Chapter 10: Developmental Genetics ............................................................................... 32 Chapter 11: Cancer Genetics ............................................................................................ 38 Chapter 12: Multifactorial Inheritance and Common Diseases........................................ 42 Sample Problems & Essay Questions: Chapter 1: Background and History ................................................................................. 46 Chapter 2: Basic Cell Biology: Structure and Function of Genes and Chromosomes ..... 50 Chapter 3: Genetic Variation: Its Origin and Detection ................................................... 54 Chapter 4: Autosomal Dominant and Recessive Inheritance ........................................... 56 Chapter 5: Sex-linked and Nontraditional Modes of Inheritance ..................................... 64 Chapter 6: Clinical Cytogenetics: The Chromosomal Basis of Human Disease .............. 68 Chapter 7: Biochemical Genetics: Disorders of Metabolism ........................................... 72 Chapter 8: Gene Mapping and Identification.................................................................... 76 Answers............................................................................................................................. 79 3 Chapter 1: Background and History Multiple Choice 1. Achondroplasia has a high mutation rate. This is most likely the result of a. Paternal age effect b. Maternal age effect c. Large gene size d. Methylated CG dinucleotide e. None of the above 2. The effect of mutations in the SHOX gene would best be described as a. Haploinsufficiency b. Dominant negative c. Autosomal recessive d. Gain of function e. X-linked recessive 3. Which of the following mechanisms is known to cause Prader-Willi syndrome? a. Chromosome duplication b. Translocation c. Uniparental disomy d. Autosomal trisomy e. Autosomal monosomy 4. Suppose you have established that a disease gene is closely linked to a marker whose location is known. Which of the following would not be useful in defining the disease gene's location? a. Testing for unmethylated CG islands b. Existence of a chromosome deletion in a patient c. Existence of trisomy in a patient d. DNA sequencing e. Testing for cross-species conservation 5. Which of the following is least likely to be seen in a patient with Huntington disease? a. Dementia b. Affective disorder c. New mutation d. Delayed age of onset e. Loss of motor control 4 6. Which of the following is not a characteristic of osteogenesis imperfecta? a. Locus heterogeneity b. Allelic heterogeneity c. Pleiotropy d. Imprinting e. Dominant negative mutation effects 7. In which of the following diseases are dominant negative mutation effects seen? a. Huntington disease b. Cystic fibrosis c. Retinoblastoma d. Marfan syndrome e. None of the above 8. Which of the following is not true of Fragile X syndrome? a. It is associated with methylation b. It can be diagnosed using a karyotype c. It is caused by a trinucleotide repeat expansion d. It displays nearly 100% penetrance e. None of the above 9. Which of the following diseases follow(s) a "2-hit model"? a. Osteogenesis imperfecta b. Adult polycystic kidney disease c. Cystic fibrosis d. Retinoblastoma e. B and D 10. The recurrence risk for trisomy 13 is increased by a. Advanced paternal age b. 13/15 translocation in one of the parents c. Extensive methylation of chromosome 13 d. Advanced maternal age e. B and D 11. Which of the following is not correct about the XIST gene a. It is expressed only on the inactive X chromosome b. It produces an RNA product (which coats the inactivated X chromosome) but no protein product c. It is expressed during embryonic development d. It is expressed at twice the level in females as in males e. All of the above are true Multiple Choice Chapter 1 1- D 2- A 3- C 4- C 5- C 6- D 7- D 8- D 9- E 10- E 11- D Chapter 2 1- B 2- D 3- A 4- E 5- E 6- D 7- A 8- C 9- A 10- B 11- E