Professional Documents
Culture Documents
OJ
EC
T
IN
SC
IE
NC
E
Submitted by:
JAHZEL JACA
Submitted to:
ALBERT MENDIOLA
Genetics Terminologies
albinism -the genetically inherited condition in which there is a marked
deficiency of pigmentation in skin, hair, and eyes. An individual with these traits
is an "albino." Since the gene for albinism is recessive, it only shows up in the
phenotype of homozygous recessive people. This is a pleiotropic trait.
alleles -alternate forms or varieties of a gene. The alleles for a trait occupy
the same locus or position on homologous chromosomes and thus govern the
same trait. However, because they are different, their action may result in
different expressions of that trait.
amino acids - small molecules that are the components of proteins. There
are 20 different kinds of amino acids in living things. Proteins are composed of
different combinations of amino acids assembled in chain-like molecules. Amino
acids are primarily composed of carbon, oxygen, hydrogen, and nitrogen.
Angelman syndrome - a rare genetically inherited form of mental retardation
due to the deletion or inactivation of specific genes on chromosome 15. The
inheritance of this syndrome is subject to genome imprinting. Children with
Angleman syndrome typically also have small heads, experience seizures, have
pronounced speech impairment, are hyperactive, and have balance disorders.
Back to Top
blending theory - an incorrect 19th century theory about the inheritance of
characteristics. It proposed that inherited traits blend from generation to
generation. Through his plant cross-breeding experiments, Gregor Mendel
proved that this was wrong
carrier an individual who is heterozygous for a trait that only shows up in the
phenotype of those who are homozygous recessive. Carriers often do not show
any signs of the trait but can pass it on to their offspring. This is the case with
hemophilia.
cataract an impairment of vision caused by the lenses of the eyes becoming
cloudy. Cataracts are common in elderly people. They may be inherited or
caused by diabetes and environmental factors.
chronic disease - an illness that lasts for a long period of time or indefinitely.
In contrast, an acute disease is one with a rapid onset and a short but usually
severe course.
chromosomes - thread-like, gene-carrying bodies in the nucleus of a cell.
Chromosomes are composed primarily of DNA and protein. They are visible only
under magnification during certain stages of cell division. Humans have 46
chromosomes in each somatic cell and 23 in each sex cell.
codominance - the situation in which two different alleles for a trait are
expressed unblended in the phenotype of heterozygous individuals. Neither
allele is dominant or recessive, so that both appear in the phenotype or
influence it. Type AB blood is an example. Such traits are said to be
codominant.
cross-pollination - the mating of two genetically different plants of the same
species. Usually, the term is used in reference to the crossing of two pure
breeding (homozygous) plants.
cystic fibrosis - a genetically inherited disease in children that results in
chronic fluid development in the lungs, making breathing difficult. This disease
also prevents normal absorption of fats and other nutrients from food. Cystic
fibrosis occurs as a result of inheriting a recessive allele for it from both parents.
This is ultimately a fatal disease, but with modern medical care, about 2/3 of the
people with it survive into early adulthood. About 30,000 people have cystic
fibrosis in the U.S. today.
diabetes - an inherited metabolic disorder in which there are abnormally high
blood sugar levels. In advanced stages, this often results in blindness from
cataracts, nerve damage, gangrene in the feet and legs leading to amputation,
heart disease, and kidney failure. Type 1 diabetes melitis (juvenile onset
diabetes) is due to decreased production of insulin by the pancreas. Type 2
diabetes melitis is due to increased resistance of cells in the body to insulin.
The gene or genes for diabetes are incompletely penetrant.
dominant allele - an allele that masks the presence of a recessive allele in the
phenotype. Dominant alleles for a trait are usually expressed if an individual is
homozygous dominant or heterozygous.
DNA - a large organic molecule that stores the genetic code for the synthesis of
proteins. DNA is composed of sugars, phosphates and bases arranged in a
double helix shaped molecular structure. Segments of DNA in chromosomes
correspond to specific genes.
evolution - genetic change in a population of organisms that occurs over
time. The term is also frequently used to refer to the appearance of a new
species.
f1 generation the first offspring (or filial) generation. The next and
subsequent generations are referred to as f2, f3, etc.
fragile-X syndrome - a relatively common genetically inherited abnormality
of the X chromosome which results in mental retardation. Since it is an X-linked
trait, males more often have it expressed in their phenotypes. Most fragile-X
males have large testes, big ears, narrow faces, and sensory integration
dysfunctions that result in learning disabilities. It is likely to occur 1 in 1000
births. Approximately 1 in 700 females are carriers of the gene for this trait.
gene flow- the transference of genes from one population to another, usually
as a result of migration. The loss or addition of individuals can easily change
the gene pool frequencies of both the recipient and donor populations--that is,
they can evolve.
gene pool - all of the genes in all of the individuals in a breeding population.
More precisely, it is the collective genotype of a population.
genes - units of inheritance usually occurring at specific locations, or loci, on a
chromosome. Physically, a gene is a sequence of DNA bases that specify the
order of amino acids in an entire protein or, in some cases, a portion of a
protein. A gene may be made up of hundreds of thousands of DNA bases.
Genes are responsible for the hereditary traits in plants and animals.
genetic drift - evolution, or change in gene pool frequencies, resulting from
random chance. Genetic drift occurs most rapidly in small populations. In large
populations, random deviations in allele frequencies in one direction are more
likely to be cancelled out by random changes in the opposite direction.
genetics
the study of gene structure and action and the patterns of inheritance of traits
from parent to offspring. Genetic mechanisms are the underlying foundation for
evolutionary change. Genetics is the branch of science that deals with the
inheritance of biological characteristics.
genome the full genetic complement of an individual (or of a species). In
humans, it is estimated that each individual possesses approximately 2.9 billion
base units in his or her DNA.
genome imprinting - an inheritance pattern in which a gene will have a
different effect depending on the gender of the parent from whom it is inherited.
Genome imprinting is also known as genetic imprinting.
genotype - the genetic makeup of an individual. Genotype can refer to an
organism's entire genetic makeup or the alleles at a particular locus.
gout - a genetically inherited metabolic disorder in which there is an
imbalance of uric acid in the blood which causes a build up of urates in joint
areas. Symptoms include painfully inflamed joints, especially of the feet and
hands, that can become chronic and result in deformity. Usually, only one joint
is involved, most commonly the base of a big toe. Gout is a sex-controlled trait,
usually being more severe in men.
hemophilia -an X-linked genetically inherited recessive disease in which one
or more of the normal blood clotting factors is not produced. This results in
prolonged bleeding from even minor cuts and injuries. Swollen joints caused by
individual does during his or her lifetime. These modified particles were thought
to migrate via blood to the reproductive cells and subsequently could be
inherited by the next generation. This was a variation of Lamarck's incorrect
idea of the "inheritance of acquired characteristics."
phenotype click this icon to hear the preceding term pronounced
the observable or detectable characteristics of an individual organism--the
detectable expression of a genotype.
pleiotropy the situation in which a single gene is responsible for a variety of
traits. The collective group of symptoms known as sickle-cell trait is an
example.
polygenic trait - an inherited trait that is determined by genes at two or more
loci. Simple Mendelian rules of dominance do not apply to the complex
interaction of these genes. As a result, phenotypes may appear as apparent
blends or intermediate expressions. Human skin and hair color are polygenic
traits. Many polygenic traits are also influenced by environmental factors.
principle of independent assortment- Gregor Mendel's second principle of
genetic inheritance. It states that different pairs of genes are passed to
offspring independently so that new combinations of genes, present in neither
parent, are possible. In other words, the distribution of one pair of alleles does
not influence the distribution of another pair. The genes controlling different
traits are inherited independently of one another.
principle of segregation
Probability- the likelihood that a specific event will occur. Probability is
usually expressed as the ratio of the number of actual occurrences to the
number of possible occurrences.
proteins - any of a large number of complex organic molecules that are
composed of one or more chains of amino acids. Proteins can serve a wide
variety of functions through their ability to bind to other molecules. Proteins
may be enzymes, hormones, antibodies, structural components, or gastransporting molecules.
proteome - the full complement of proteins produced by an individual (or a
species). It is estimated that each human produces approximately 90,000 types
of proteins.
psoriasis an inherited disease characterized by recurring thick, reddish
patches of inflamed skin. It affects men and women equally. This trait is subject
to genome imprinting.
Punnett square - a simple graphical method of showing all of the potential
combinations of offspring genotypes that can occur and their probability given
the parent genotypes. See example below. Punnett squares are commonly
sperm
stuttering alleles- defective alleles that have segments which are doubled in
their transmission from generation to generation. In the case of genetically
inherited diseases, the result is increasingly severe symptoms each generation.
The myotonic form of muscular dystrophy is an example. Stuttering alleles are
also known as unstable alleles.
Tay-Sachs Disease - a genetically inherited condition caused by the inability
to produce the enzyme hexosaminidase A. This results in progressively
increased fluid pressure on the brain and the subsequent degeneration of the
brain and nervous system beginning about 6 months of age and inevitably
resulting in death usually by age 2-3. The gene responsible for Tay-Sachs
Disease is recessive. It has been most common among the descendents of
Eastern European Jews (Ashkenazi Jews).
true breeding
unit inheritance- Gregor Mendel's idea that the characteristics of parents are
passed on to descendants unchanged as units. In other words, the hereditary
material of any organism is made up of discrete units (now called genes).
unstable alleles
virus - a category of extremely small microscopic parasites of plants, animals,
and bacteria. Viruses are not cells but rather RNA or DNA molecules surrounded
by a protein coating. Since viruses cannot reproduce without a host cell, they
are not strictly speaking living organisms.
X-linked- referring to a gene that is carried by an X sex chromosome.
zygote - a "fertilized" ovum. More precisely, this is a cell that is formed when
a sperm and an ovum combine their chromosomes at conception. A zygote
contains the full complement of chromosomes (in humans 46) and has the
potential of developing into an entire organism.
Meiosis (process)
Meiosis is a process where a single cell divides twice to produce four cells
containing half the original amount of genetic information. These cells are our
sex cells sperm in males, eggs in females.
During meiosis one cell? divides twice to form four daughter cells.
These four daughter cells only have half the number of chromosomes? of the
parent cell they are haploid.
Meiosis produces our sex cells or gametes? (eggs in females and sperm in
males).
Meiosis can be divided into nine stages. These are divided between the first time
the cell divides (meiosis I) and the second time it divides (meiosis II):
MEIOSIS I
1. Interphase:
The DNA in the cell is copied resulting in two identical full sets of chromosomes.
Outside of the nucleus? are two centrosomes, each containing a pair of
centrioles, these structures are critical for the process of cell division?.
During interphase, microtubules extend from these centrosomes.
2. Prophase I:
The copied chromosomes condense into X-shaped structures that can be easily
seen under a microscope.
Each chromosome is composed of two sister chromatids containing identical
genetic information.
The chromosomes pair up so that both copies of chromosome 1 are together,
both copies of chromosome 2 are together, and so on.
The pairs of chromosomes may then exchange bits of DNA in a process called
recombination or crossing over.
At the end of Prophase I the membrane around the nucleus in the cell dissolves
away, releasing the chromosomes.
The meiotic spindle, consisting of microtubules and other proteins, extends
across the cell between the centrioles.
3. Metaphase I:
The chromosome pairs line up next to each other along the centre (equator) of
the cell.
The centrioles are now at opposites poles of the cell with the meiotic spindles
extending from them.
The meiotic spindle fibres attach to one chromosome of each pair.
4. Anaphase I:
The pair of chromosomes are then pulled apart by the meiotic spindle, which
pulls one chromosome to one pole of the cell and the other chromosome to the
opposite pole.
In meiosis I the sister chromatids stay together. This is different to what happens
in mitosis and meiosis II.
5. Telophase I and cytokinesis:
The chromosomes complete their move to the opposite poles of the cell.
At each pole of the cell a full set of chromosomes gather together.
A membrane forms around each set of chromosomes to create two new nuclei.
The single cell then pinches in the middle to form two separate daughter cells
each containing a full set of chromosomes within a nucleus. This process is
known as cytokinesis.
MEIOSIS II
6. Prophase II:
Now there are two daughter cells, each with 23 chromosomes (23 pairs of
chromatids).
In each of the two daughter cells the chromosomes condense again into visible
X-shaped structures that can be easily seen under a microscope.
The membrane around the nucleus in each daughter cell dissolves away
releasing the chromosomes.
The centrioles duplicate.
The meiotic spindle forms again.
7. Metaphase II:
In each of the two daughter cells the chromosomes (pair of sister chromatids)
line up end-to-end along the equator of the cell.
The centrioles are now at opposites poles in each of the daughter cells.
Meiotic spindle fibres at each pole of the cell attach to each of the sister
chromatids.
8. Anaphase II:
The sister chromatids are then pulled to opposite poles due to the action of the
meiotic spindle.
The separated chromatids are now individual chromosomes.
9. Telophase II and cytokinesis:
The chromosomes complete their move to the opposite poles of the cell.
At each pole of the cell a full set of chromosomes gather together.
A membrane forms around each set of chromosomes to create two new cell
nuclei.
This is the last phase of meiosis, however cell division is not complete without
another round of cytokinesis.
Once cytokinesis is complete there are four granddaughter cells, each with half
a set of chromosomes (haploid):
in males, these four cells are all sperm cells
in females, one of the cells is an egg cell while the other three are polar bodies
(small cells that do not develop into eggs).
Mitosis (process)
During mitosis one cell? divides once to form two identical cells.
The major purpose of mitosis is for growth and to replace worn out cells.
If not corrected in time, mistakes made during mitosis can result in changes in
the DNA? that can potentially lead to genetic disorders?.
Mitosis is divided into five phases:
1. Interphase:
The DNA in the cell is copied in preparation for cell division, this results in two
identical full sets of chromosomes?.
Outside of the nucleus? are two centrosomes, each containing a pair of
centrioles, these structures are critical for the process of cell division.
During interphase, microtubules extend from these centrosomes.
2. Prophase:
The chromosomes condense into X-shaped structures that can be easily seen
under a microscope.
Each chromosome is composed of two sister chromatids, containing identical
genetic information.
The chromosomes pair up so that both copies of chromosome 1 are together,
both copies of chromosome 2 are together, and so on.
At the end of prophase the membrane around the nucleus in the cell dissolves
away releasing the chromosomes.
The mitotic spindle, consisting of the microtubules and other proteins, extends
across the cell between the centrioles as they move to opposite poles of the cell.
3. Metaphase:
The chromosomes line up neatly end-to-end along the centre (equator) of the
cell.
The centrioles are now at opposite poles of the cell with the mitotic spindle
fibres extending from them.
The mitotic spindle fibres attach to each of the sister chromatids.
4. Anaphase:
The sister chromatids are then pulled apart by the mitotic spindle which pulls
one chromatid to one pole and the other chromatid to the opposite pole.
5. Telophase:
At each pole of the cell a full set of chromosomes gather together.
A membrane forms around each set of chromosomes to create two new nuclei.
The single cell then pinches in the middle to form two separate daughter cells
each containing a full set of chromosomes within a nucleus. This process is
known as cytokinesis.
DNA Structure
Autosomal recessive
If the phenotype associated with a given version of a gene is observed only
when an individual has two copies, the allele is said to be autosomal recessive.
The phenotype will be observed only when the individual is homozygous for the
allele concerned. An individual with only one copy of the allele will not show the
phenotype, but will be able to pass the allele on to subsequent generations. As a
result, an individual heterozygous for an autosomal recessive allele is known as
a carrier.
Females (XX) have two copies of each gene on the X chromosome, so they can
be heterozygous or homozygous for a given allele. However, males (XY) will
express all the alleles present on the single X chromosome that they receive
from their mother, and concepts such as 'dominant' or 'recessive' are irrelevant.
A number of medical conditions in humans are associated with genes on the X
chromosome, including haemophilia, muscular dystrophy and some forms of
colour blindness.
Mitochondrial inheritance
Animal and plant cells contain mitochondria that have their evolutionary origins
in protobacteria that entered into a symbiotic relationship with the cells billions
of years ago. The chloroplasts in plant cells are also the descendants of
symbiotic protobacteria. As a result, mitochondria and chloroplasts contain their
own DNA.
Mitochondria are scattered throughout the cytoplasm of animal and plant cells,
and their DNA is replicated as part of the process of mitochondrial division. A
newly formed embryo receives all its mitochondria from the mother through the
egg cell, so mitochondrial inheritance is through the maternal line.