by Hunter Ballew
How does it happen that children inherit
certain characteristics from their parents? What determines exactly what
characteristics each child will inherit? Why is
it, in some cases, that two brown-eyed parents have all
brown-eyed children, and in other cases two brown-eyed parents have some
brown-eyed children and
some blue-eyed children?
These can be very complicated questions,
and they require the entire science of genetics for a complete answer.
However, some of the simpler principals of
genetics can be grasped through the application of statistical
techniques and mathematical models to life situations. For example, Gregor
Mendel first discovered
and understood the laws of heredity by gathering and
organizing with painstaking care a mass of data on pea plants. Mendel followed
up the statement of his
laws by comparing his data to a probability model. After
studying the relationship between his data and the model, he was able to
develop a plausible explanation
of how characteristics are passed from parents to offspring.
Although Mendel's experiment took place in the middle of the nineteenth
century, the results of those
experiments form the basis of modern-day science of genetics.
Most curriculum experts and learning
theorists seem to agree that the application of mathematics to real life
situations helps the students master skills and understand concepts. Mendel's
experiments concerning inherited characteristics in plants can be drawn
on to provide applications in junior high school mathematics and science
classes in two categories:
1. Basic statistical techniques of gathering and organizing
data
2. The use of probability models to explain observed
patterns.
Statistical Aspects of Mendel's Experiments
Gregor Mendel, an Austrian monk and
teacher, was interested in characteristics inherited by offspring from
their parents. In particular, he was intrigued by his observation that
when two unlike plants were crossbred, a characteristic of one of the parents
would sometimes disappear entirely in the first generation of offspring,
only to reappear in some of the plants of the second generation. For example,
he had crossed a tall pea plant with a dwarf pea plant, and the seeds from
this crossing had produced plants that were all tall. The characteristic
of dwarfness had disappeared completely in the first-generation offspring,
he found that some of the second-generation offspring were tall and some
were dwarf.
Mendel began to wonder whether one
of the opposing characteristics from two different types of parents would
always disappear in the first generation of offspring after a hybrid crossing
and whether the missing characteristic would always reappear in the second
generation. If so, would the missing characteristic always reappear in
approximately the same proportion in the second generation? He designed
an experiment that would allow him to gather data that might resolve these
mysteries. He was well equipped to study these problems of heredity because
he was trained in both biology and mathematics. Mendel's work was the first
in history to link heredity and mathematics [5].
Mendel used garden peas in his initial
experiments because there were several varieties available with easily
distinguishable characteristics. He identified seven pairs of traits that
could be clearly described, observed, and tabulated. For example, he chose
one type of pea plant that was short and bushy and paired that type with
another that was tall and climbing. One kind had yellow seeds; another
had green seeds. One variety had smooth seeds and another had wrinkled
seeds.
Mendel first obtained seeds from plants
exhibiting the seven pairs of characteristics he was interested in studying.
Before he began the experiments that would produce the data he needed,
he had to make sure his seeds would breed true. That is, seeds from tall
plants must produce only tall plants, seeds from dwarf plants must produce
only dwarf plants, and so on for all of the seven pairs of traits he planned
to study. To make sure of this, Mendel planted his seeds one year, took
seeds from those plants that bred true, and planted these seeds the second
year. When his plants bred true the second year, he was confident that
he now had pure seeds, and so he began his experiments.
In the first year of his experiment,
Mendel planted his fourteen varieties in different plots. The separate
plots allowed him to study each pair of characteristics one pair at a time.
All other characteristics of the plants in a particular plot could be disregarded,
making possible a clear and simple tabulation of results [127, p. 122].
The plants in the first year of the
experiment were called the parent generation. Before the plants in the
parent generation could self-pollinate, they were cross-pollinated artificially
to produce hybrid pea seeds. For example, the pollen of a flower from a
dwarf plant was applied to the stigma of a flower from a tall plant [127.
p. 127]. Hybrid seeds from these crossings were collected and carefully
labeled in relation to the type of crossing from which they resulted.
Now Mendel's curiosity was about to
be satisfied. He sowed the hybrid seeds from the parents generation in
the second year of his experiment so that he could see what the first generation
of offspring would look like. He would soon be able to state, under controlled
conditions, what plants resulting from hybrid seeds could be expected to
look like. For example, if a tall plant is crossed with a dwarf plant,
would the first generation offspring be expected to be tall like one parent,
or short like the other parent, or perhaps of medium height somewhere between
the two parents? Because of his previous observations, Mendel conjectured
that all plants resulting from the crossing of pure tall with pure dwarf
would be tall. His conjecture was proved correct by his experimental results.
In every one of the seven pairs of traits he was studying, one trait disappeared
entirely in the first generation of plants after the crossing. It appeared
that one member of each pair of contrasting traits had overpowered the
other. This led Mendel to conclude that for each of the seven pairs of
traits, one characteristic could be said to be dominant over the
other [127, p. 133].
Mendel's plan next was to determine
what would happen if the first-generation plants were allowed to self-pollinate.
He wondered if the resulting seeds would produce second-generation plants
with exactly the same characteristics as the first-generation plants. For
example, would seeds from first-generation tall plants always produce second-generation
plants that were also tall? It might seem logical to assume that seeds
from a tall plant would always produce tall plants, but Mendel's experimental
results proved otherwise. He kept careful records on which seeds came from
which first-generation plants, and then sowed these seeds in the
third year of his experiment. This is the step by which Mendel made history.
He found that some of the second-generation plants were tall and some were
short. None was in between. Furthermore, he found that the ratio of tall
plants to short plants was approximately three to one in the second-generation.
He found similar results for all seven of the pairs of traits he was studying.
Table 24.1 gives, as an illustration, his results for three of the seven
pairs of traits.
TABLE 24.1
MENDEL'S RESULTS FOR THREE PAIRS OF TRAITS
| First Cross | First-Generation Plants | Second-Generation Plants |
| Tall X Short | All Tall | 787 Tall
277 Short |
| Yellow Seeds X Green Seeds | All Yellow | 6022 Yellow
2001 Green |
| Smooth Seeds X
Wrinkled Seeds |
All Smooth | 5474 Smooth
1850 Wrinkled |
Table 24.1 shows how Mendel used large
numbers of plants and organized his information carefully in order to get
an accurate description of the results. His mathematical training enabled
him to analyze the results and to develop a theory to explain what happened.
Mendel did not know of the existence of genes, of course, but he responded
that there must be some factors present in the mixed plants of the first
generation that transmitted the missing trait to some of the plants of
the second generation. He conjectured that one of these factors (genes,
as
they are called today) must come from the male parent and the other from
the female parents and that these factors must combine in some way at the
moment of fertilization to determine the characteristics of the offspring.
This reasoning by Mendel illustrates
the potential value of the basic statistical techniques of carefully gathering
and organizing data. Using these methods, he was able to perceive patterns
accurately and to state these patterns as laws of heredity with a fair
amount of confidence. He next turned to some mathematical modeling to develop
a possible explanation of the observed patterns.
A Model for Inherited Characteristics in Plants
After tabulating the results of his
experiments, Mendel noted that the dominant characteristic appeared in
the second-generation plants about three times as often as the other characteristic.
This ratio was approximately the same for each of the seven pairs of characteristics
he studied. From his conjecture that each trait is determined by a pair
of factors, Mendel concluded that the two factors within a particular plant
must have been obtained from the parents by a chance paring at the moment
or fertilization. By comparing his results to a probability model, Mendel
was able to show how his observed three-to-one ratio could be expected
to occur. It is remarkable that Mendel was able to use a probability model
to develop a possible explanation of inherited characteristics even though
very little was known in his day about what occurs physically within the
sex cells when an egg is fertilized by a sperm cell.
Mendel's thinking can be studied by
using modern symbolism for genes. A pair of genes that determine height
can be represented by TT in a pure tall plant and ss in a pure short plant,
in which each letter stands for a single gene. Suppose a pure tall plant
(TT) is crossed with a pure short plant (ss). Since each parent contributes
only one gene for height to the offspring and since both genes in the pure
tall parent are alike, the gene from the pure tall parent must be a T.
This situation is somewhat like flipping a two-headed coin. Whichever way
the coin falls, the result must be a head. Similarly, the pure short parent
can contribute only an s gene to the offspring.
The result of crossing a pure tall
plant with a pure short plant is similar to tossing a two-headed coin and
a two-tailed coin at the same time. The possible results are summarized
in table 24.2. The model shows that no matter how the coins land,, there
is always a head on one and a tail on the other.
The possible results of crossing a
pure tall plant with a pure short plant are represented in table 24.3.
The structure of table 24.3 is exactly the same as that of table 24.2.
The model shows that each pair of genes in the first-generation offspring
is made up of a T gene from a tall parent and an s gene from the short
parent. Plants with this type of genetic makeup are called hybrid.
Mendel's observation was that all his hybrid plants of the first generation
were tall. He concluded that this observation could be explained by assuming
that tallness is dominant over shortness. For clarity in interpreting
the symbols, capital letters are used for the dominant gene and lowercase
letters for the others. The model in table 24.3 shows that all the
hybrid plants of the first generation, resulting from crossing two pure
plants, would be tall. This corresponds with Mendel's actual results.
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POSSIBLE RESULTS OF TOSSING A TWO-HEADED COIN
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POSSIBLE RESULTS OF CROSSING A PURE TALL
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Now it is appropriate to examine the possible results
of crossing two hybrid tall plants. Table 24.3 shows the genetic
stricture of each offspring of a pure tall plant and a pure short plant
to be Ts. Table 24.4 shows the possible results of crossing a Ts
with another Ts. The model provided by table 24.4 shows that three
of every four plants in the second generation can be expected to be tall.
Also, the shortness characteristic, which disappeared entirely in the first
generation, can be expected to reappear in the second generation at the
rate of one in every four plants. These expected results correspond
closely to the results actually found by Mendel in his experiments.
TABLE 24.4
POSSIBLE RESULTS OF CROSSING TWO HYBRIDS
| Female | Plant (Ts) | ||
| T | s | ||
| Male | T | TT | Ts |
| Plant (Ts) | s | Ts | ss |
The male can contribute either a T
gene or an s gene to the offspring, and the female can also contribute
either a T gene or an s gene. Chance determines which combinations are
made. Table 24.4 shows the four possible combinations, and all combinations
are equally likely. However, three of the possibilities contain T genes,
and since T is dominant over s, the probability of getting a tall plant
in the second generation is 3/4, and the probability of getting a short
plant is 1/4.
Table 24.4 is similar in structure
to a table showing possible results of tossing two coins. The only difference
between the gene model and the coin model is that the idea of dominance
is missing in the latter.
Models for Inherited Human Characteristics
Many human characteristics, such as
eye color, hair color, sex, ear lobe type, and tongue type, are inherited
[95, pp. 44-45]. Some of these characteristics can be illustrated and studied
with relatively simple probability models. One such characteristic is tongue
rolling. Some people can roll their tongues into a U-shape, and others
cannot. Rolling is dominant over nonrolling. In table 24.5, R stands for
a rolling gene and n stands for a nonrolling gene. Each offspring from
this union has a probability of 1/2 of being a roller and each offspring
has a probability of 1/2 of being a nonroller.
TABLE 24.5
POSSIBLE RESULTS RELATING TO TONGUE ROLLING
| Female | Parent (nn) | ||
| n | n | ||
| Male | R | Rn | Rn |
| Parent (Rn) | n | nn | nn |
Probability in the determination of sex
Just as it cannot be told in
advance whether a flipped coin will land heads or tails, neither can it
be determined with certainty whether the next child a couple has will be
a boy or a girl. However, it can be safely assumed that of all babies born
during a specific period of time, about half will be boys and about half
girls. Actually, a few more boys are born than girls, but the figures are
close enough so that a one-to-one ratio can be assumed for most practical
purposes.
Units called genes are responsible
for transmitting characteristics from parents to offspring, and genes are
located on bodies called chromosomes. Chromosomes are located in
cells that form the structure of living things.
Every cell in the human body, except
for the sex cells, contains twenty-three pairs of chromosomes. The sex
cells have twenty-three single chromosomes instead of twenty-three
pairs
of chromosomes. Then, when fertilizations occurs, a male cell joins a female
cell, and the twenty-three single chromosomes in the male cell join the
twenty-three single chromosomes in the female cell to form twenty-three
pairs of chromosomes. As a result, the cells of the offspring then have
twenty-three pairs of chromosomes each, just as the cells
of the parent did.
One of the twenty-three pairs of chromosomes
in each cell is a pair of sex chromosomes. the female has a pair of identical,
rod-shaped sex chromosomes called X chromosomes. The corresponding pair
of chromosomes in the cell of the male are different. One member of the
pair is an X chromosome like that in the female, but its mate, instead
of being rod-shaped, is bent like a hook. Its shape is similar to a Y,
and so it is called a Y chromosome.
Since the sex cell of the female (the
egg) contains only single chromosomes instead of pairs of chromosomes,
the sex chromosome found in each egg would always be a single X chromosome.
The male sex cell (or sperm), however, could contain either a single
X chromosome or a single Y chromosome. About half the sperm cells
contain an X chromosome, and the other half contain a Y chromosome. The
sex of an individual is normally determined at the time of fertilization
[82, p. 216].
If the sex chromosomes of the female
are denoted by XX and the sex chromosomes of the male by XY, a model showing
the possibilities for the sex of offspring can be shown in table 24.5.
Sex, like the tounge-rolling trait, is determined by chance. If a sperm
with an X chromosome happens to be the one that fertilizes the egg, the
sex of the offspring will be female. If a sperm with a Y chromosome happens
to be the one that fertilizes the egg, the sex of the offspring will be
male. The model in table 24.6 shows that half the children born can be
expected to be boys and half can be expected to be girls.
TABLE 24.6
POSSIBILITIES OF SEX OF OFFSPRING
| Female | (XX) | ||
| X | X | ||
| Male | X | XX | XX |
| (XY) | Y | XY | XY |
Sex-linked inheritance characteristics
Some people cannot distinguish
certain colors or combinations of colors. Some types of color blindness
are red, green, red-green, blue-yellow, and complete color blindness. Only
about 1 percent of woman are color-blind, but somewhere between 5 and 8
percent of men are color-blind [55,p.486]. It has been observed that a
color-blind father may have a daughter with normal vision, and then this
daughter may have a son whom the trait of color blindness reappears after
having been missing for a generation. Inherited characteristics that behave
in this way are called sex-linked characteristics.
The occurrence of sex-linked characteristics
can be explained by assuming that X chromosomes contain genes that transmit
certain characteristics and that Y chromosomes do not contain genes that
transmit these characteristics. These genes will express themselves in
male offspring even though they are not dominant because Y chromosomes,
which males get and females do not get, contain no genes to prevent the
expression of these sex-linked traits [81, p. 187]. A female would be color-blind
only if the gene for color blindness is carried by both of her X chromosomes.
Models can be constructed to depict
probabilities of color blindness occurring in offspring. In these models,
X denotes a chromosome with a normal gene for color vision, and X' denotes
a chromosome with a gene for color blindness. Normal color vision is dominant
over color blindness. The following combinations are possible in regard
to color blindness:
XX: Normal
female
XX': Carrier
female
X'X': Color-blind
female
XY: Normal
male
X'Y: Color-blind
male
Since there are three combinations
relating to color blindness that could exist in females and two combinations
that could exist in males, there are 3 X 2 = 6 possible mating combinations.
Tables 24.7 and 24.8 show two of these six possibilities. It is possible
to conclude from table 24.7 that none of the offspring from this union
would be color-blind. All the female offspring, however, would be carriers
of the gene for color blindness.
Table 24.8 shows that half the males
born of a normal male and a female carrier can be expected to be color-blind,
and half the females can be expected to be carriers of the gene for color
blindness. Reflection and the construction of other tables would show that
female offspring could be color-blind only if the father is color-blind
and
the mother is either color-blind or a carrier of the gene for color-blindness.
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POSSIBLE COMBINATIONS OF OFFSPRING RESULTING
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POSSIBLE COMBINATIONS OF OFFSPRING RESULTING
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