Genetics and Genomics in Nursing and Health Care
Theresa A. Beery, M. Linda Workman, and Julia A. Eggert
2nd Edition
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,Table of Contents
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Chapterqw 01 DNA Structure and Function
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Chapterqw 02 Protein Synthesis
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Chapterqw 03 Genetic Influence on Cell Division, Differentiation, and Gametogenesis
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Chapterqw 04 Patterns of Inheritance
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Chapterqw 05 Epigenetic Influences on Gene Expression
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Chapterqw 06 Autosomal Inheritance and Disorders
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Chapterqw 07 Sex Chromosome and Mitochondrial Inheritance and Disorders
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Chapterqw 08 Family History and Pedigree Construction
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Chapterqw 09 Congenital Anomalies, Basic Dysmorphology, and Genetic Assessment
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Chapterqw 10 Enzyme and Collagen Disorders
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Chapterqw 11 Common Childhood-Onset Genetic Disorders
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Chapterqw 12 Common Adult-Onset Disorders
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Chapterqw 13 Cardiovascular Disorders
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Chapterqw 14 The Genetics of Cancer
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Chapterqw 15 Genetic Contributions to Psychiatric and Behavioral Disorders
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Chapterqw 16 Genetic and Genomic Testing
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Chapterqw 17 Assessing Genomic Variation in Drug Response
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Chapterqw 18 Health Professionals and Genomic Care
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Chapterqw 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 qw
1. In qw which body or cell area are most genes in humans located?
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a. Nucleus
b. Mitochondrion
c. Cytoplasm
d. Plasma membrane qw
ANS: A qwqw
Most genes are part of the DNA located in the nucleus of body cells. Only a few genes
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are located in a cell’s mitochondrion or mitochondria. There are no genes or DNA in eith
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er the 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.
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c. Sex-linked recessive disorders affect males more often than females.
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d. One allele for each gene is inherited from the mother, and one is inherited fro
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m the father. qw qw
ANS: A qwqw
Genetics is the study of the general mechanisms of heredity and the variation of inherit
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ed traits. Genomics is the study of the function of all the nucleotide sequences present
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within the entire genome of a s p e c i e s , Wi nWcW
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gSgeMn.
esWiS
qw n DNA coding regions and DNqw qw qw qw qw qw qw qw qw
A noncoding
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regions. Selections B, C, and D all refer to mechanisms of heredity. Only selection A refer
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s
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 qw qw qw qw qw
b. Holding complementary strands together qw qw qw
c. Ensuring that a purine is always paired with a pyrimidine
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d. Preventing the separation of double-stranded DNA into single-stranded DNA
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ANS: A qwqw
Each nucleoside becomes a complete nucleotide when a phosphate group is attached. T
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he phosphates have multiple binding sites, and each one can link to two nucleotides.
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These linkages allow the nucleotides to be connected when placed into the DNA stran
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d. The nucleotides within each strand are held in position by the linked phosphate grou
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ps, which 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 dif
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ferent expression of the trait coded for by that gene?
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a. Alleles
b. Bases
c. Centromeres
d. Diploids
ANS:
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For each single gene, two alternative forms of that gene, known as alleles, together co
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ntrol how that gene is expressed. The alleles may be identical in their sequence but do
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not have to be. When a dominant allele is paired with a recessive allele, only the domi
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nant allele is expressed, and the recessive allele is silent. When a dominant allele is pa
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ired with another dominant allele, they are both expressed (usually equally). Recessive
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alleles are only expressed when they are homozygous. Bases are the essential part of a
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wnucleotide, of which there are many within any gene region. Centromeres are the pinc
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hed-
in part of a chromosome between the p arms and the q arms. The term diploid refers t
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o the normal number of chromosome pairs within a cell. It is an adjective, not a noun.
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wTherefore, the plural diploids does not exist. qw qw qw qw qw qw
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 qwqw
Because of complementary pairing, if 30% of the bases are guanine (G), which always pa
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irs with cytosine C, these two bases account for 60% of the total bases in this stretch. T
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he remaining bases make up 40% of the total. This 40% is composed of equal percentag
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es of thymine (T) and adenine (A).
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6. What is the term used to describe the organized picture of the paired chromosomes wit
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hin a cell used to determine whether chromosome numbers, structures, and banding pa
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tterns are qw
normal? WWW.TBSM.WS
a. Pedigree
b. Phenotype
c. Karyotype
d. Autotype
ANS: C qwqw
A karyotype is a picture of an organized arrangement of all of the chromosomes within
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one cell during the metaphase section of mitosis. The chromosomes are paired and the
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n arranged by number according to size and centromere position. The banding pattern o
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f each pair is analyzed to determine whether areas have been deleted, expanded, or tran
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slocated. A pedigree also is a picture, but it illustrates several generations of a family
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history.
Phenotypes are observable traits. Autotype is not a genetic term.
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7. What would be the sequence of DNA that is complementary to a DNA section with the
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base sequence of GGTCAATCCTTAG?
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a. GATTCCTAACTGG
b. TTGACCGAAGGCT
c. AACTGGCTTCCGA
d. CCAGTTAGGAATC
qw ANS: q w D
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