Genomics CERTIFICATION GUIDE
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genetics - Genetics is the study of genes and their role in inheritance. Genetics
determines the way that certain traits or conditions are passed down through genes. A person's
genes can have a profound impact on health and disease. We think more than 4000 diseases
are related to altered genes.
genomics - Genomics is the study of all a person's genes (the genome), including
interactions of these genes with each other and with the person's environment Influences
diabetes, heart disease, pregnanct. Complete set of DNA and include all the persons genes
genetic mutation - change in the DNA sequence of an organism's genome due to errors
during DNA replication, exposure to environmental factors, or inherited.
may result in disease or increased risk. Inherited- caused by mistake in DNA replication or the
environment. Inherited present at birth
Germline Mutations - change in the DNA sequence that occurs in the reproductive cells—
sperm or eggs—and can be passed on to offspring.
inherited from parent. happen because of an error in DNA replication.
Acquired (somatic) mutations - changes in the DNA sequence that occur in non-
reproductive cells (somatic cells) after conception. Unlike germline mutations, they are not
inherited, cannot be passed on to offspring. Occur at any time during an individual's life, may
result from environmental factors - exposure to UV radiation or chemicals. (Cancer) or DNA
replication mistake. Do not follow inheritance pattern like Punnet square.
autosomal dominant - Fully expressed - pattern of inheritance where single copy of
mutated gene on one of the non-sex chromosomes (autosomes) is sufficient to cause a genetic
, disorder (Aa). individual only needs to inherit the altered gene from one parent to express the
condition. Typically, each child of an affected parent has a 50% chance of inheriting the disorder.
Manifest in every generation, affect both males and females equally. I.e. Huntington's disease ,
Marfan syndrome, Breast cancer
autosomal recessive - inheritance pattern requires that an individual inherit two copies of
a mutated gene—one from each parent—to express a genetic disorder (aa). both parents are
typically carriers of the mutated gene but do not exhibit symptoms themselves. Each child of
carrier parents, 25% chance of inheriting disorder, a 50% chance carrier, and a 25% unaffected.
often appear in siblings but not parents, affect both males and females equally. Examples cystic
fibrosis, sickle cell anemia, and phenylketonuria.
x-linked recessive - mutations on the X chromosome. males, who have only one X
chromosome, more frequently affected because a single copy of the mutated gene on their X
chromosome will express the condition. Females, possessing two X chromosomes, typically
need two copies of the mutated gene—one on each X chromosome—to express the condition.
If a female has only one mutated gene, she is usually a carrier, does not show symptoms.
Affected males inherit the mutated gene from their mothers, as fathers pass on their Y
chromosome to their sons. Examples: hemophilia and red-green color blindness.
epigenetics - study of inheritable changes in gene activity that do not involve alterations
to the DNA sequence itself. modifications influence gene expression, determining whether
specific genes are turned on or off. reversible and can be influenced by environmental factors,
lifestyle choices, and developmental stages. Influence development, aging, and onset of certain
diseases
change in phenotype/not genotype
heterozygous - two different alleles for a specific gene—one inherited from each parent.
This means that at a particular gene locus, the two alleles are not identical (Bb). Dominant allele
is expressed.
homozygous - two identical alleles for a specific gene—one inherited from each parent.
This means that at a particular gene locus, both alleles are the same (BB, bb)
chromosome - threadlike structure composed of DNA and proteins that carries genetic
information within the nucleus of eukaryotic cells. Humans -46 chromosomes 23 pairs: 22 pairs
of autosomes and one pair of sex chromosomes (XX or XY).