Medical Genetics 5th Edition Jorde Test Bank
Test Bank for (Chapter 1- 12) Medical Genetics 5th Edition Lynn Jorde, John Carey, Michael Bamshad, ISBN: 9780323391979, ISBN: 9780323391962, ISBN: 9780323391993, ISBN: 9780323188371, ISBN: 9780323188357
Table of Contents
1 Background and History
2 Basic Cell Biology: Structure and Function of Genes and Chromosomes
3 Genetic Variation: Its Origin and Detection
4 Autosomal Dominant and Recessive Inheritance
5 Sex-Linked and Nontraditional Modes of Inheritance
6 Clinical Cytogenetics: The Chromosomal Basis of Human Disease
7 Biochemical Genetics: Disorders of Metabolism
8 Disease-Gene Identification
9 Immunogenetics
10 Genetic Basis of Development
11 Cancer Genetics
12 Multifactorial Inheritance and Common Diseases
Test Bank NOT available for Chapter 13, 14, and 15
13 Genetic Testing and Gene Therapy
14 Genetics and Precision Medicine
15 Clinical Genetics and Genetic Counseling
Jorde: Medical Genetics, 5th Edition
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
Answer: d
Correct Feedback: This has been shown to be the cause of achondroplasia.
Incorrect Feedback: This has not been shown to be the cause of achondroplasia.
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
Answer: a
Correct Feedback: The effect is best described as haploinsufficiency.
Incorrect Feedback: This does not explain the effects of mutations in the SHOX gene
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
Answer: c
Correct Feedback: Prader Willi syndrome is effected by genomic imprinting. Thus, a uniparental disomy could cause the disease.
Incorrect Feedback: This would not cause Prader Willi syndrome.
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
Answer: c
Correct Feedback: This would not be useful in defining the disease gene’s location.
Incorrect Feedback: This could help you find the disease gene’s location.
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
Answer: c
Correct Feedback: This is rarely seen in Huntington disease. It has one of the lowest known mutation rates of all human disease genes, estimated at approximately 1 per 1 million (per locus per generation).
Incorrect Feedback: This is seen with Huntington disease.
