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Genetics and Genomics in Nursing and Health Care
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Theresa A. Beery, M. Linda Workman, and Julia A. Eggert
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2nd Edition
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,Table of Contents
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Chapter 01 DNA Structure and Function
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Chapter 02 Protein Synthesis
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Chapter 03 Genetic Influence on Cell Division, Differentiation, and Gametogenesis
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Chapter 04 Patterns of Inheritance
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Chapter 05 Epigenetic Influences on Gene Expression
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Chapter 06 Autosomal Inheritance and Disorders
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Chapter 07 Sex Chromosome and Mitochondrial Inheritance and Disorders
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Chapter 08 Family History and Pedigree Construction
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Chapter 09 Congenital Anomalies, Basic Dysmorphology, and Genetic Assessment
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Chapter 10 Enzyme and Collagen Disorders
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Chapter 11 Common Childhood-Onset Genetic Disorders
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Chapter 12 Common Adult-Onset Disorders
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Chapter 13 Cardiovascular Disorders
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Chapter 14 The Genetics of Cancer
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Chapter 15 Genetic Contributions to Psychiatric and Behavioral Disorders
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Chapter 16 Genetic and Genomic Testing
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Chapter 17 Assessing Genomic Variation in Drug Response
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Chapter 18 Health Professionals and Genomic Care
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Chapter 19 Financial, Ethical, Legal, and Social Considerations
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Chapter 20 Genetic and Genomic Variation
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Chapter 1: DNA Structure and Function
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MULTIPLE CHOICE c
1. In which body or cell area are most genes in humans located?
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a. Nucleus
b. Mitochondrion
c. Cytoplasm
d. Plasma membrane c
ANS: A c c
Most genes are part of the DNA located in the nucleus of body cells. Only a few genes are
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located in a cell’s mitochondrion or mitochondria. There are no genes or DNA in either the
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cytoplasm or the plasma membranes of any cell.
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2. Which condition or statement exemplifies the concept of genomics rather than genetics?
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a. The gene for insulin is located on chromosome 11 in all people.
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b. Expression of any single gene is dependent on inheriting two alleles. c c c c c c c c c c
c. Sex-linked recessive disorders affect males more often than females. c c c c c c c c
d. One allele for each gene is inherited from the mother, and one is inherited from the
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father. c
ANS: A c c
Genetics is the study of the general mechanisms of heredity and the variation of inherited
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ctraits. Genomics is the study of the function of all the nucleotide sequences present within
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cthe entire genome of a s p e c i e s , Wi nWcW
c c l u.d iTn B
gSgeMn.
esWiS
n DNA coding regions and DNA noncoding
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regions. Selections B, C, and D all refer to mechanisms of heredity. Only selection A refers
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to the function of a specific nucleotide sequence.
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3. What is the purpose of phosphorous in a DNA strand?
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a. Linking the nucleotides into a strand c c c c c
b. Holding complementary strands together c c c
c. Ensuring that a purine is always paired with a pyrimidine c c c c c c c c c
d. Preventing the separation of double-stranded DNA into single-stranded DNA c c c c c c c c
ANS: A c c
Each nucleoside becomes a complete nucleotide when a phosphate group is attached. The
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phosphates have multiple binding sites, and each one can link to two nucleotides. These
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linkages allow the nucleotides to be connected when placed into the DNA strand. The
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nucleotides within each strand are held in position by the linked phosphate groups, which
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act like the string holding a strand of beads together, forming a necklace.
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4. What is the term used to define alternative forms of a gene that may result in different
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expression of the trait coded for by that gene?
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a. Alleles
b. Bases
c. Centromeres
d. Diploids
ANS: A
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For each single gene, two alternative forms of that gene, known as alleles, together control
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how that gene is expressed. The alleles may be identical in their sequence but do not have to
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be. When a dominant allele is paired with a recessive allele, only the dominant allele is
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expressed, and the recessive allele is silent. When a dominant allele is paired with another
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dominant allele, they are both expressed (usually equally). Recessive alleles are only
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expressed when they are homozygous. Bases are the essential part of a nucleotide, of which
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there are many within any gene region. Centromeres are the pinched-in part of a
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chromosome between the p arms and the q arms. The term diploid refers to the normal
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number of chromosome pairs within a cell. It is an adjective, not a noun. Therefore, the
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plural diploids does not exist.
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5. What percentage of bases in a stretch of double-stranded DNA that contains 30% guanine
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(G) bases would be adenine (A)?
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a. 70%
b. 60%
c. 30%
d. 20%
ANS: D c c
Because of complementary pairing, if 30% of the bases are guanine (G), which always pairs
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with cytosine C, these two bases account for 60% of the total bases in this stretch. The
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remaining bases make up 40% of the total. This 40% is composed of equal percentages of
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thymine (T) and adenine (A).
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6. What is the term used to describe the organized picture of the paired chromosomes within a
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cell used to determine whether chromosome numbers, structures, and banding patterns are
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normal? WWW.TBSM.WS
a. Pedigree
b. Phenotype
c. Karyotype
d. Autotype
ANS: C c c
A karyotype is a picture of an organized arrangement of all of the chromosomes within one
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cell during the metaphase section of mitosis. The chromosomes are paired and then arranged
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by number according to size and centromere position. The banding pattern of each pair is
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analyzed to determine whether areas have been deleted, expanded, or translocated. A
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pedigree also is a picture, but it illustrates several generations of a family history.
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Phenotypes are observable traits. Autotype is not a genetic term. c c c c c c c c c
7. What would be the sequence of DNA that is complementary to a DNA section with the base
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sequence of GGTCAATCCTTAG?
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a. GATTCCTAACTGG
b. TTGACCGAAGGCT
c. AACTGGCTTCCGA
d. CCAGTTAGGAATC
cANS: D c
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