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Genetics, a leader in the newly emerging industry of direct-to-consumer
genetic testing services, is proud to provide helpful resources
for consumers. We are actively building our our resource certer,
so feel free to come back an visit periodically.
Consumer Genetics
Glossary
What is DNA?
DNA (deoxyribonucleic acid) encodes information to make each
of us who we are. DNA is made up of four nucleotides: adenine
(A), cytosine (C), guanine (G), and thymine (T) in two strands.
The order of these four nucleotides is different for each
person and each person has more than 3 billion nucleotides
making up their body. DNA is located almost everywhere in
the body except inside red blood cells. You are born with
your DNA and it does not change significantly during your
life.
Regions of DNA called introns contain repeats of nucleotide
patterns while exons contain genes. Genes are lengths of DNA
that encode a message to make a protein. Proteins do all of
the work in the body. Proteins can be enzymes, regulation
factors, or structural components within the body.
Many of our tests look at a specific DNA sequences in the
body that make up a gene. In many cases research has shown
that a single nucleotide change in a gene can influence how
your body reacts to substances you consume (for example ethanol,
caffeine, or pharmaceutical compounds such as albuterol).
What is RNA?
RNA (ribonucleic acid) is an intermediary between DNA and
protein.
What is a gene?
Genes are lengths of DNA that encode a message to make a
protein.
What is a protein?
Proteins perform the daily functions to keep our bodies running.
Proteins can be enzymes, regulation factors, or structural
components within the body.
What is an allele?
An allele is a region of DNA, often encoding a gene, that
is inherited from either the mother or the father.
What is a chromosome?
A chromosome is a bundle of DNA. Humans have 23 chromosomes:
chromosomes 1 through 21 and either two X chromosomes (female),
or one X and one Y chromosome (male).
What is homozygous?
Homozygous means that a person has two identical copies of
an allele.
What is heterozygous?
Heterozygous means that a person has two different copies
of an allele.
What is a phenotype? What is a genotype?
A phenotype is an observable characteristic while a genotype
is the actual gene sequence which may or may not result in
an observable characteristic.
What is dominant?
A dominant phenotype means that the phenotype displays if
the person has two copies of the dominant allele or if they
have one copy of the dominant allele and one copy of the recessive
allele. For example, (GIVE EYE COLOR EXAMPLE or something
similar).
What is recessive?
A recessive phenotype means that the phenotype displays only
when a person has two copies of the recessive allele. For
example (GIVE THE OPPOSITE CASE AS ABOVE)
What is a nucleotide?
A nucleotide is a compound made up of a base, a sugar, and
a phosphate group. DNA is made up of four nucleotides adenine
(A), cytosine (C), guanine (G), and thymine (T), while RNA
is made up of adenine (A), cytosine (C), guanine (G), and
uracil (U).
What is qRTPCR?
qRT PCR (quantitative real time polymerase chain reaction)
is a version of PCR in which the DNA being amplified can be
seen in real time. Fluorescent dyes attached to the newly
synthesized DNA are detected over time so that as more and
more DNA accumulates more fluorescence is detected. This precise
detection of product can be used to determine the exact amount
of DNA present in the original sample, for example a sample
submitted by one of our customers.
What is PCR?
PCR (polymerase chain reaction) is a process in which a small
amount of DNA is amplified into a much larger amount (by as
much as 240 times) by enzymes that synthesize DNA at high
temperatures. The temperature is regulated in three stages
that make up each synthesis cycle. Many similar cycles are
run in order to exponentially increase the amount of DNA.
What is allelic discrimination?
Allelic discrimination is a technique that allows detection
of a region of DNA in which there is a single nucleotide difference
or single nucleotide polymorphism (SNP) between each of the
alleles inherited from a person’s parents.
What is a SNP?
A SNP (single nucleotide polymorphism) is a single nucleotide
change in the DNA. Often SNPs occur in genes and change the
way a protein functions, creating a phenotype.
What is a positive control?
A positive control is a known sample that gives a positive
result. Controls are used as a quality control measure to
ensure a test is working properly.
What is a negative control?
A negative control is a known sample that gives a negative
result. Controls are used as a quality control measure to
ensure a test is working properly.
What is the human genome?
The human genome is composed of 21 autosomal chromosomes
and 2 sex chromosomes.
What are autosomal chromosomes?
Autosomal chromosomes are non-sex chromosomes that are present
in both sexes.
What is a sex chromosome?
In humans the sex chromosomes are the X and Y chromosome.
Females have two X chromosomes while males have one X and
one Y chromosome.
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