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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.
SIDE-LEVER ENGINE.
From the Model in the Victoria and Albert Museum.
The contract was for ten years, and to take effect from
December 1st, 1841. The fourteen ships were all named after British
rivers, and many readers will be aware that this custom of the
company has continued ever since, although in some cases the
names of foreign rivers have also been thus employed. Some of
these vessels were built at Northfleet on the Thames, others
(including the Teviot and Clyde) were built at Greenock, others at
Dumbarton, Leith, and Cowes. The Lords of the Admiralty stipulated
that the vessels should be built under their supervision, and a naval
officer was put in charge of the mails on each steamer, and carried
out a sort of supervision of the ship’s affairs, a boat’s crew being
always at his service when the mails were being taken aboard or
disembarked. The illustration facing page 112 shows the launch of
the Forth at Leith in 1841. This picture, which is taken from a
contemporary painting, is worthy of perusal, as showing the close
resemblance between the mercantile marine and naval architecture
of the period. Strength rather than slim beauty, massiveness rather
than fineness, formed the keynote both in the steam and sailing
ships of that time. In the same year had already been launched the
Thames from Northfleet, and in the following year that vessel
inaugurated this new service, setting forth, like the older packets,
from Falmouth. The voyage from there to the West Indies took about
eighteen days, but exceptional runs were done in seventeen days.
This new steamship departure was an undoubted success, and
the Admiralty admitted that even the Government, with all its naval
resources, could not have succeeded so well as this private
company in getting together and ready for sea in so short a time so
many large and well-equipped new steamers. Financially this meant
a very large outlay, and there was not much less than a million of
money expended on this first fleet. It should be stated, however, that
the Government subsidised the concern by a grant of £240,000 per
annum. Presently Falmouth gave way to Southampton as the
headquarters of the Royal Mail fleet. To-day there are so many big
liners calling at the Hampshire port, and there is at all times of the
day so continuous a procession of all kinds of large steamships, that
it is difficult to realise that in those days this was comparatively a
small port.
It was only natural that, as soon as ever the West Indian service
should have proved itself successful, a branch should be extended
to the South American Continent. In 1846, therefore, the company
organised a means of transit by mules and canoes across the
Isthmus of Panama, which were in 1855 superseded by the Panama
Railroad. Although we are departing from our historical sequence in
the development of the steamship, it is convenient here to sketch
very rapidly the progress of the Royal Mail Line farther still, for the
evolution of a steamship company is not necessarily that of the
steamship. A small company may be famous for having one or two
ships that are always the last word in modern ship-building and
marine engineering; a large company may possess a considerable
aggregate of tonnage, but its ships may be behind the lead of others
in improvements. For the moment we are considering the enterprise
which enabled the early steamships to penetrate to distant, over-sea
territories where the Elizabethan sailors had gone in their slow-going
ships scarcely three centuries before.
B
The Royal Mail Co. has now absorbed the
Pacific Steam Navigation Co.
But there was now another force coming in, which was to entirely
alter the character of the liner. Let us trace the evolution of the screw
propeller, which has completely banished the old-fashioned paddle-
wheel from its place in the ocean-going ship, and is rapidly having
the same effect in cross-Channel steamers. We saw that away back
in 1804 John Stevens had crossed the Hudson in a little ship that
was driven along by a screw propeller, but it was not until the year
1836 that the screw was re-introduced. In this year John Ericsson, a
Swedish engineer, obtained a patent for his invention which
consisted of two drums, on whose exteriors were seven helical
blades, the interior of each drum having the three blades which
formed the radii of the circle. Both these drums worked on one axis,
and were placed behind the rudder, and not in front of it as is the
modern propeller. If the reader will turn to the plate facing page 118,
he will see this at the beginning of the second line to the left. The
drums were made to work in opposite directions, the object being to
avoid loss due to the rotary motion already remaining in the water
discharged by a single screw.
Ericsson applied this invention to the Francis B. Ogden, which
was built in 1837. She was 45 feet long, and was driven by a two-
cylinder steam engine with a boiler pressure of 50 lb. The result of
the experiment showed that she could tow a vessel of 630 tons
burthen at 4½ knots against the tide. The following year a larger
vessel, the Robert F. Stockton, was built by Laird Brothers, and
attained a speed of thirteen knots on the Thames, with the tide in her
favour. Afterwards she crossed the Atlantic, but under canvas, and
was turned into a tug as the New Jersey, for work in New York
waters. The illustration facing page 120, which has been lent by
Messrs. Cammell, Laird and Company, Limited, of Birkenhead,
shows her rigged as a topsail schooner under sail and steam. Her
measurements were 63.4 feet long, 10 feet beam, 7 feet deep, with a
register of 33 tons, and engines of 30 horsepower. Although she was
the first screw steamer to cross the Atlantic, yet her voyage is
interesting rather as a fairly daring trip of a small sailing ship than as
proving the reliability of the screw propeller.
But at the same time that Ericsson was working at his idea,
Francis Smith, an Englishman, who was afterwards knighted, was
also engaged at the same problem, though his method of solution
was of a different nature, as will be seen by a reference to the last
illustration on the first line of the plate facing page 118. His patent
was granted in the same year as Ericsson’s, and was tried with
success the year after on the Paddington Canal. Smith was a farmer
at Hendon, and had already experimented with a model driven by
clockwork on a farm pond, just as Fulton had carried out his early
experiments with a clockwork model in a tank. The next step was to
repeat the experiment on a six-ton boat which was driven by a steam
engine, the propeller being, like those of the modern aeroplanes, of
wood. It was while thus experimenting that an interesting accident
happened, for about one-half of the screw thus shown in the
illustration was broken off, and to everyone’s surprise the boat
instantly began to leap forward at a quicker speed. Later the boat
was fitted with a screw having one turn instead of two, and made of
metal instead of wood, and in this small craft Smith cruised as far as
Folkestone. Her speed was 5½ knots.