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1516instant Download PDF Genetics and Genomics For Nursing 1st Edition Kenner Solutions Manual Full Chapter
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Chapter 6: Mosaicism
Page 1 of 9
Chapter 6
Mosaicism
Objectives:
1. Explore the basics of chromosomes to clarify the definition of mosaicism.
I. CHROMOSOMAL BASICS
A. Definitions
1. Eukaryote cells – contain long strands of DNA that encode an individual’s genetic
information
2. Nucleotides – contain alternating patterns of four bases: adenine, cytosine,
tyrosine, and guanine
3. Replication – process of linking structures to create DNA while RNA is created
through transcription
4. Genotype – determined at the gene level as long stretches of DNA
a) Repeatedly coiled in complex ways to facilitate packing into a chromosome
b) Nucleosomes – small spheres of histone proteins
(1) Resemble small beads
5. Histones – special class of protein contained within the nucleic acid mixture
a) Assist in making the chromosome more compact so it can properly fit in the
nucleus and provide structural support
©2013 by Pearson Education, Inc.
Kenner/Lewis, Instructor’s Resource Manual for Genetics and Genomics for Nursing, 1st Edition
Chapter 6: Mosaicism
Page 2 of 9
(a) Strands may break apart at the crossover point and reconnect to the
other chromosome
(b) Recombination results in a new arrangement of maternal and paternal
alleles on the same chromosome
(c) Ensure variation in the gametes
(2) Nondisjunction
(a) Mistake that occurs during the sorting of chromosomes for the
production of a sperm or egg
(b) Meiosis I – error occurs when the homologous pairs both migrate into
the same daughter cell
(c) Meiosis II – error occurs when the sister chromatids will not separate
and thus migrate into the same daughter cell
(d) Cause is unknown
(e) Maternal age a factor
2. Trisomy zygote
a) Zygote receives three different chromosomes because the egg contributed both
a maternal copy and a paternal copy of homologous chromosomes
E. Mosaic – Factors
1. Number of cells present at the time of the nondisjunction mistake
a) Very early in either meiosis or mitosis
b) It will affect a greater quantity of cells in the developing embryo
2. Type of cells affected
a) Change in the number of chromosomes
(1) If the duplicated chromosome contains genetic instructions
3. Survival of trisomic cells
a) Trisomic cells usually divide less quickly and undergo cell death more
commonly than diploid cells
b) Particular chromosome involved plays a role in the survival of the cells so that
the abnormal trisomic cells are prevented from reproducing
c) Minimizes or eliminates the effect of the original nondisjunction error
D. Clinical Outcomes
©2013 by Pearson Education, Inc.
Kenner/Lewis, Instructor’s Resource Manual for Genetics and Genomics for Nursing, 1st Edition
Chapter 6: Mosaicism
Page 7 of 9
1. Dependent on the specific chromosome and the number of trisomic cells in the
fetus and the placenta
2. Inconstant
a) Individual who is mosaic for trisomy 21 may have the chromosomal change in
60% of skin cells and in only 5% of blood cells
b) Accurate determination of the proportion of trisomic cells present is virtually
impossible to determine in a living person
E. High resolution ultrasounds
1. Used to determine fetal morphology, nuchal translucency, and growth and
development
F. Uniparental disomy (UPD)
1. An individual inherits two copies of a chromosome pair from one parent and no
copy from the other parent
a) Mechanisms
(1) The loss of a chromosome from a trisomic zygote
(2) Possible duplication of a chromosome from a monosomic zygote
(3) Fertilization of a gamete with two copies of a chromosome by a
gamete with no copies of the same chromosome
(a) Gamete complementation
2. Associated with the type of confined placental mosaicism, the chromosome
involved, and the origin of the trisomy (mitotic or meiotic)
G. Imprinting
1. Some genes are only expressed when inherited from the father while others are
only expressed when inherited from the mother
VI. SUMMARY
A. Essential to having an understanding of the formation of trisomies
and trisomy mosaicism
B. Essential that a health care provider possesses insight into
understanding the formation of trisomies in order to provide
appropriate counseling for the pregnant woman
C. Trisomic mosaicism can be confined to the placenta without affecting
the fetus and is believed to occur in approximately 1% to 2% of
pregnancies
D. Uniparental disomy is related to trisomy by virtue of two consecutive
mistakes involving either meiotic or mitotic nondisjunctions and is
significant for the potential expression of autosomal recessive genes
ACTIVITIES
Classroom
As a class explore the differences between somatic mosaicism and gonodal mosaicism. Discuss
how genetic mosaics may be useful to study biological systems.
Small Group
Assign each group a mosaicism disorder and create a plan of care if the patient becomes
hospitalized.
Individual
Direct the students to the Medical New Today (MNT) website at
http://www.medicalnewstoday.com/articles/245326.php. Have each student read the article
“Genetic Mosaicism Linked to Aging and Cancer” by Catharine Paddock. Rate the article for
Patients/Public and Health Professionals found at the end of the article.