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Why do children so often resemble their parents? Why do
some brothers and sisters share similar traits, while others
are very different? To a large degree, it's a function of
the genes — which are the basic units of heredity
— they have in common. How does this happen? Let's
find out a little bit about what genes are and how we inherit
them.
Your body is made up of trillions of cells. In some ways,
your cells can be very different from each other. For example,
they can specialize in a particular function, such as carrying
oxygen (red blood cells), absorbing food (intestinal cells),or
sensing light (cells in your eyes).
In other ways, your cells have a lot in common. For instance,
at the center of almost all of your cells is a ball-shaped
structure called the ,
inside of which are 46 thread-like structures called .
These chromosomes contain the estimated 35,000 genes that,
in many ways, make us who we are.
To understand how we end up with a given set of genes,
we need to learn more about chromosomes.
Chromosomes
A chromosome is a long strand of DNA, packaged together
with proteins and other kinds of molecules. Each chromosome
has a ,
which plays an important role during cell division and also
divides each chromosome into a short arm and a long arm.
Scientists can tell different chromosomes apart based on
their size, the relative lengths of their arms, distinctive
staining patterns, and other characteristics.
Humans have two types of chromosomes: and .
Two sex chromosomes determine the sex of an individual,
and they are called the X chromosome and the Y chromosome.
If you are female, you have two Xs, and if you are male,
you have one X and one Y (although there are genetic conditions
in which this varies). The autosomes comprise the other
22 chromosomes. The longest of the autosomes is referred
to as chromosome 1, the next largest as chromosome 2, and
so on, down to the smallest autosomes, chromosomes 21 and
22.
Each cell nucleus contains two copies of each autosome
(44 chromosomes), plus two sex chromosomes (either two Xs
or an X and a Y) for a total of 46. With few exceptions,
the chromosomes and genes found within any two cells of
your body will be identical.
The mystery as to why you resemble your family members
is solved by discovering how you inherited your chromosomes
from your parents.
Cell Division
Each chromosome within our body (except the chromosomes
within cells that develop into sperm or eggs) is created
by making a copy of a previously existing chromosome. This
occurs during the process called
during which cells divide for growth or repair. Before each
division, the cell makes an identical copy of each chromosome
and during mitosis, each of the two new cells receives a
complete set of 46 chromosomes.
Each new cell has the same set of chromosomes and the same
genetic information as the "parent" cell. This
explains why almost every cell in your body has the same
genetic information.
A slightly different process takes place during the production
of egg and sperm cells. When an egg and a sperm unite at
fertilization, their nuclei unite to form the nucleus of
a human zygote. If the sperm and egg carried 46 chromosomes,
like the rest of the body's cells, then the zygote would
have 92, which would be incompatible with life.
To prevent this, a special type of cell division, called
,
takes place.
The process of meiosis begins with a single cell containing
46 chromosomes and results in four reproductive cells (sperm
or eggs), each of which carries 23 chromosomes. An important
feature of these four cells is that the combination of genes
they carry on their 23 chromosomes is a unique mix of the
genes present in the original single cell.
You resemble your parents because half of the instructions
— genes — for making you came from your father
and half from your mother. Similarly, your brother or sister
also received half of their genetic instructions from each
parent, but the set they received is somewhat different
from the set you received. That's why they may resemble
you, but they are not identical to you. Identical twins
receive exactly the same combination of genes and chromosomes.
DNA and Proteins
As discussed in the Basic Genetics section,
is a large molecule packaged in chromosomes in the
of cells. The DNA molecule contains genes that direct the
production of proteins.
are molecules that play a critical role in the structure,
function, and regulation of your body's cells, tissues,
and organs. Every protein is made up of a chain of building
blocks called.
The code that is carried by DNA determines which amino
acids will come together in what order to form a given protein.
Genes act, or "express," themselves by dictating
the order of amino acids used to make proteins.
The proteins made by some genes are needed by all cells,
but different sets of genes may be switched on or off in
different cells. This leads to different collections of
proteins being made and results in different structures,
appearances and functions. In addition to determining what
proteins are made, the DNA in a cell also controls how much
of a protein will be made and under what circumstances.
Heredity
If you studied several family trees and traced the inheritance
of a given trait in the families, you would find that unique
patterns exist. Several factors are involved in determining
patterns of inheritance, including where the trait-causing
gene is located (on the autosomes or sex chromosomes) and
whether one or two copies are necessary for a given trait
to be expressed.
Genes may exist in more than one form, each of which is
called an ;
the most common form of a gene is called its "wild
type." No matter how many forms (or alleles) a gene
has, each person inherits only two of them — one from
the mother and one from the father.
(the observable effect of the allele, such as eye color;
in the case of medication, how the person reacts to a drug).
Gene variants (alleles) may change the gene so that it
codes for a protein that works just as well or better than
the protein coded for by the wild type. However, variant
alleles can also change a protein so that it no longer works
as well or does not work at all.
To illustrate, let's consider genes that code for the proteins
(called )
that break down non-naturally occurring chemicals in our
body (for example, air pollutants, poisons, or medicines)
so they can be safely excreted.
Suppose that in a certain population, such as everyone
living in the United States, such a gene is present in two
forms, called "A" and "a." We would
say this gene has two alleles. Allele "A" codes
for an enzyme that breaks down Drug X quite efficiently,
and it is most common in the population (wild type).
Allele "a" resulted from a
(change in the order of DNA bases) in allele "A"
at some point in evolution, and the enzyme it produces doesn't
break down Drug X at all.
While people who carry two copies of the "A"
allele can take Drug X safely, people who carry two copies
of the "a" allele will not be able to break down
Drug X effectively, so large amounts of the drug will stay
in their bodies for a long time, which might lead to serious
side effects. People who carry one copy of "A"
and one of "a" may have an intermediate response
(depending on how the enzyme is affected). This example
illustrates how important a person's genes can be when it
comes to being treated safely and successfully with a medicine.
Inheritance Patterns
Each gene is present on every chromosome (generally), so
a pair of chromosomes contains two copies of the same gene.
The two copies may be identical or different. In cases where
there are variations of a gene, one of the alleles can take
precedence over (or override) the other. In the classic
case observed by Mendel, the result of crossing a white-flowered
pea with a purple-flowered pea was a purple offspring —
not a pale purple, which would suggest mixing or blending
of the two genes. The gene for purple color was
over the gene for white color, which was called .
A person who has two identical alleles for a gene is said
to be
for that gene. A person with two different alleles is said
to be .
The dominant allele is usually represented by a capital
letter and the recessive allele by a lower-case letter (ie,
A, a).
A person (or pea plant!) with two dominant alleles is called
homozygous dominant for that gene — and that pea plant
would have purple flowers. With one dominant and one recessive
allele, the person would be heterozygous — and the
pea would have purple flowers. If two recessive alleles
are present, the person is homozygous recessive —
and only in this case, with both alleles coding for white
flowers, would the pea plant have white flowers.
These are the most common patterns of inheritance:
- Autosomal dominant inheritance is caused by a mutation
in a gene located on an autosomal chromosome and occurs
when one autosomal allele masks the expression of another
allele. A dominant gene from just one parent will result
in the phenotype, which may be eye or hair color or may
be a serious condition such as Huntington Disease. See
an example here.
- Autosomal recessive inheritance also is caused by a
mutation in a gene located on an autosome, but in this
case, two copies of the recessive gene are needed for
the trait to be expressed. Cystic fibrosis and diseases
affecting metabolism (such as phenylketonuria/PKU) are
autosomal recessive conditions.
See an example here.
- X-linked recessive inheritance is caused by a gene on
the X chromosome rather than on an autosome. Females have
two X chromosomes, so they need to inherit two copies
of the allele to express the trait; if they have just
one copy, they are a carrier of the trait, but do not
usually exhibit it (although they may have mild symptoms
in some cases). Males are affected by X-linked recessive
traits because they have only X chromosome, so they need
only one variant gene to express the trait. Hemophilia
is an example of an X-linked recessive disease —
it affects men most severely. See
an example here.
- Complex inheritance involves the additive effect of
many genes interacting with each other and with the environment.
Common diseases such as heart disease, obesity, osteoarthritis
and asthma are not inherited according to Mendel's patterns,
but result from an interplay of environmental factors
(such as diet, exercise, smoking, and exposure to pollutants)
with .
See a
comparison here.
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