Pattern of Inheritance

Understand what is meant by the terms gene, allele, genotype, phenotype, recessive, dominant,
codominance, homozygote and heterozygote
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.

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.

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.

Genotype
The genetic makeup of an individual.

Genotype can refer to an organism's entire genetic makeup or the alleles at a particular locus.

Phenotype
The observable or detectable characteristics of an individual organism--the detectable expression of a
genotype, resulting due to interaction between genotype and the environment.

Recessive allele:
An allele (alternate form of a gene) that is masked in the phenotype by the presence of a dominant allele.

Recessive alleles are expressed in the phenotype when the genotype is homozygous recessive (aa).

Dominant allele:

An allele (alternate form of a gene) that is expresses itself in the phenotype both in homozygous and
heterozygous conditions.
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 co-dominant.

Heterozygous:
A genotype consisting of two different alleles of a gene for a particular trait (Aa).

Individuals who are heterozygous for a trait are referred to as heterozygotes.

Homozygous:
Having the same allele at the same locus on both members of a pair of homologous chromosomes.

Homozygous also refers to a genotype consisting of two identical alleles of a gene for a particular trait.

An individual may be homozygous dominant (AA) or homozygous recessive (aa). Individuals who are
homozygous for a trait are referred to as homozygotes.

Autosome: Chromosome which carries information about the body but do not determine the sex of an
organism

Homogametic: An individual who produces gametes that contains only one type of sex chromosome – In
humans this is the female.

Heterogametic: An individual who produces two different type of gametes each containing different type of
sex chromosome – In humans this is the male.

Transcription factor: Protein that binds to the DNA in the nucleus and effects the process of transcription.

Epigenetics: The study of changes in gene expression (active versus inactive genes) that does not involve
changes to the underlying DNA sequence but affect how cells read genes.

Sex linked disease: Genetic disease that results from a mutated gene carried on the sex chromosomes – In
humans, being on the X chromosomes.

Red – green colour blindness: A sex-linked genetic condition which affects the ability to distinguish tones of
red and green

Mutation:

A permanent alteration of genetic material such that a new variation is produced / A permanent change in
the DNA of an organism.
For instance, a trait that has only one allele (A) can mutate to a new form (a). This is the only mechanism of
evolution that can produce new alleles of a gene.

carrier
an individual who is heterozygous for a trait that only shows up in the phenotypeof 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.

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.

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.

Gametes:

Haploid sex cells that fuse to form a new diploid cell (zygote) during sexual reproduction

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. See Human Genome Project.

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 internal bleeding is a common problem for hemophiliacs. Hemophilia most often afflicts males.

heterozygous
a genotype consisting of two different alleles of a gene for a particular trait (Aa). Individuals who are
heterozygous for a trait are referred to as heterozygotes. See homozygous.
homologous chromosomes
chromosomes that are paired during the production of of sex cells in meiosis. Such chromosomes are alike
with regard to size and also position of the centromere. They also have the same genes, but not necessarily
the same alleles, at the same locus or location.

homozygous
having the same allele at the same locus on both members of a pair of homologous
chromosomes. Homozygous also refers to a genotype consisting of two identical alleles of a gene for a
particular trait. An individual may be homozygous dominant (AA) or homozygous recessive
(aa). Individuals who are homozygous for a trait are referred to as homozygotes. See heterozygous.

Human Genome Project

a multinational research effort designed to identify and map the location of all human genes.

Huntington's disease
a severe genetically inherited fatal degenerative nerve disorder. The symptoms usually do not appear until
early middle age. There is a progressive loss of muscle control that inevitably leads to paralysis and
death. This disease is also called Huntington's chorea .
hybrids
offspring that are the result of mating between two genetically different kinds of parents--the opposite of
purebred.

Point Mutation / Gene mutation: A change in a single base of the DNA code.

Substitution: A type of point mutation in which one base is substituted for another.

Deletion: A type of point mutation in which a base is completely lost.

Addition / Insertion: A type of point mutation in which a base is added into a gene, which may be a repeated
or a different base.

Chromosomal mutations: Changes in the position of the entire gene / genes with in a chromosome.

Whole – Chromosome mutation: The loss or duplication of a whole chromosome.

Variation: Differences between organisms which may be the result of different genes or the environment
that they live.

Mutagen: Anything that increases the rate of mutations.

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.

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
used by genetics counselors to predict the odds of a couple passing on particular inherited traits.

purebred
offspring that are the result of mating between genetically similar kinds of parents--the opposite of
hybrid. Purebred is the same as true breeding.

recessive allele
an allele that is masked in the phenotype by the presence of a dominant allele. Recessive alleles are
expressed in the phenotype when the genotype is homozygous recessive (aa).

X-linked
referring to a gene that is carried by an X sex chromosome.