Genetics Vocabulary - Glossary of Terms (2022)

    Basic Genetics Terms

    Sources of terms/definitions: (Note: in some cases term definitions are quoted directly; in others the term definition language was adjusted, the word 'dog' substituted for people/human)

    National Human Genome Research Institute (NHGRI)Glossary:;

    Genetics Home Reference:;

    Understanding Genetics: A District of Columbia Guide for Patients and Health Professionals. Appendix B Classic Mendelian Genetics (Patterns of Inheritance):

    OFA Glossary:

    A Glossary of Genetic Terms - Dr. John Armstrong:


    (Video) Genetics Vocabulary

    Allele: a variant form of a gene.

    Allele frequency: the fraction of all the alleles of a gene in a population that are of one type.

    Carrier: an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms. Carriers are associated with diseases inherited as recessive traits. In order to have the disease, an individual must have inherited mutated alleles from both parents. An individual having one normal allele and one mutated allele does not have the disease. Two carriers may produce children with the disease.

    Chromosome: strings of genes (DNA that codes for proteins) with non-coding DNA between them. Offspring get half of their chromosomes from their dam and half from their sire.

    Crossbreeding: Crossbreeding is the general practice of mating two dogs of different varieties or breeds.See:Cross-breeding - Articles -

    DNA: Deoxyribo Nucleic Acid: made up of very long chains of chemical 'letters': Adenine (A), Guanine (G), Thymine (T) and Cytosine (C).

    DNA sequencing: A laboratory technique used to determine the exact sequence of bases (A, C, G, and T) in a DNA molecule. The DNA base sequence carries the information a cell needs to assemble protein and RNA molecules. DNA sequence information is important to scientists investigating the functions of genes.

    Dominant: refers to the relationship between two versions of a gene. Individuals receive two versions of each gene, known as alleles, from each parent. If the alleles of a gene are different, one allele will be expressed; it is the dominant gene. The effect of the other allele, called recessive, is masked.

    Estimated Breeding Value (EBV): EBVs are a calculation that, in the case of dogs, generally uses the clinical/phenotypedata (such as hip or elbow scheme scores) along with the clinical/phenotype data in a dog's pedigree, to estimate the likely genes/genotype of the dog which may be passed on to their offspring. EBVs can be calculated for wide variety of genetic attributes that cannot be determined through other tools, such as a genetic test.A good-quality EBV is a much better estimation of a dog's risk (or quality) than phenotypic information alone. (See also: Genetic Breeding Value)

    (Video) Genetics Vocabulary Tutorial

    Exon: the portion of a gene that codes for amino acids.

    Founder effect: is the reduction in genetic variation that results when a small subset of a large population is used to establish a separate breed population (purebred dog breeds).

    Gene: the basic physical and functional unit of heredity. Genes, which are made up of DNA, act as instructions to make molecules called proteins. Genes are the basic physical unit of inheritance. Genes are passed from parents to offspring and contain the information needed to specify traits.

    Gene dropping: loss of alleles due to genetic drift.

    Gene mapping: the process of establishing the locations of genes on the chromosomes.

    Genetic Breeding Value (GBV): GBVs use genomic data (as opposed to phenotype data alone in EBVs), normally SNPs, to estimate a breeding value for an individual. Calculating a GBV is one tool that can be used to better estimate risk of inheritance of traits with low-heritability. E.g. complex conditions that are inherited, but may have low-predictability of inheritance due to a combination of multiple genes, environmental factors, etc.GBVs are more common in livestock. (See also: Single Nucleotide Polymorphisms (SNPs) and Estimated Breeding Values.)

    Genetic counseling: the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual. The genetic counselor determines whether a condition in the family may be genetic and estimates the chances that another relative may be affected. Genetic counselors also offer and interpret genetic tests that may help to estimate risk of disease.

    Genetic heterogeneity: a common phenomenon with both single-gene diseases and complex multi-factorial diseases. It should not be surprising that multiple affected family members may experience different levels of disease severity and outcomes. This effect may be due to other genes influencing the disease phenotype or different mutations in the same gene resulting in similar, but not identical phenotypes.

    Genome: an individual's complete set of DNA, including all of its genes. Each genome contains all of the information needed to build and maintain that individual.

    (Video) Biology 30 Genetics Vocabulary

    Genotype: the genetic contribution to the phenotype (physical traits).

    Heterozygous: Two genes in the same location that are unlike in action (Aa). Dominant traits may be expressed in the heterozygous state.

    Homozygous: Two identical genes (a matched pair) in the same location for the same trait (AA).

    Incomplete penetrance: if not all individuals tested and shown to have a mutation develop features of the disorder associated with the mutation, then the condition is said to have reduced or incomplete penetrance.

    Linkage: the close association of genes or other DNA sequences on the same chromosome. The closer two genes are to each other on the chromosome, the greater the probability that they will be inherited together.

    Locus|Loci: the specific physical location of a gene or other DNA sequence on a chromosome.

    Marker: A genetic marker is a DNA sequence with a known physical location on a chromosome. Genetic markers can help link an inherited disease or trait with the responsible gene.

    Mendelian Modes of Inheritance:

    • Autosomal Dominant (Each affected dog has an affected parent, occurs in every generation);
    • Autosomal Recessive (Both parents of an affected dog are carriers, not typically seen in every generation);
    • X-linked Dominant (Females more frequently affected, can have affected males and females in same generation);
    • X-linked Recessive (Males more frequently affected, affected males often present in each generation);
    • Mitochondrial (Can affect both males and females, but only passed on by females, can appear in every generation)

    ALSO SEE: the HGTD Database Resources article: Acronyms - Mode of Inheritance

    (Video) Genetics vocabulary | Inheritance and variation | Middle school biology | Khan Academy

    Monomorphic genes: have only one common allele (rare alleles with frequencies of less than 0.001% may still occur).

    Mutation: a change in the sequence of the base pairs in a DNA molecule.

    Non-Mendelian Inheritance: complex inheritance - co-dominance, incomplete dominance, multiple alleles, and environmental influences.

    Outcross:Out-crossing, sometimes called out-breeding is the practice of crossing between different dogs of the same breed, with no known common ancestors.The opposite of linebreeding or inbreeding.

    Phenotype: observable traits, such as height, eye color, and blood type.

    Polygenic: characteristics are controlled by more than one gene, and each gene may have two or more alleles. The genes may be on the same chromosome or on nonhomologous chromosomes. Many polygenic traits are also influenced by the environment and are called multifactorial.

    Population genomics: application of genomic technologies to understand populations. In dogs, population genomics typically refers to applying technology in the quest to understand how genes contribute to health and well-being.

    Recessive: In the case of a recessive genetic disorder, an individual must inherit two copies of a mutated allele in order for the disease to be present. Identification of these animals carrying recessive allele mutations linked to disease development and expression is important to a breeding program since the dog appears completely normal but can produce affected offspring.

    Short Tandem Repeat (STR): An STR is a place in DNA code where a sequence is repeated. Eg: ATAGATAGATAG is ATAG repeated 3 times.STRs have a fast mutation rate. When they change, it is an increase or decrease in the number of repeats. You may see genetic tests, such as parentage testing, that are based on STR or SNPs (See: Single Nucleotide Polymorphism). These methods are not interchangeable, and do not "read" to each other.

    (Video) Introduction to Genetic Terminology

    Single Nucleotide Polymorphism (SNP):Single nucleotide polymorphisms,called SNPs (“snips”), are the most common type of genetic variation in animals (including people). Each SNP represents a difference in a single DNA building block, called a nucleotide. Many genetic tests, and other genetic tools, are based on SNPs - the places along the genome where variations/differences can occur.

    Trait: is a specific characteristic of a dog. Traits can be determined by genes or the environment, or more commonly by interactions between them. The genetic contribution to a trait is called the genotype. The outward expression of the genotype is called the phenotype.

    Variable expressivity: refers to the range of signs and symptoms that can occur in different dogs with the same genetic condition.


What are the important vocabulary terms in genetics? ›

Haploid — cell with one of each kind of chromosome; is said to contain a haploid or n, number of chromosomes. Homologous chromosome — paired chromosomes with genes fro the same traits arranged in the same order. Hybrid — offspring formed by parents having different forms of a specific trait.

What are the 10 words associated to genetics? ›

What are the 4 types of genetic? ›

There are four different types of genetic disorders (inherited) and include:
  • Single gene inheritance.
  • Multifactorial inheritance.
  • Chromosome abnormalities.
  • Mitochondrial inheritance.

What are key terms of DNA? ›

DNA is made up of four building blocks called nucleotides: adenine (A), thymine (T), guanine (G), and cytosine (C). The nucleotides attach to each other (A with T, and G with C) to form chemical bonds called base pairs, which connect the two DNA strands.

What are the 3 major fields of genetics? ›

Genetics may be conveniently divided into 3 areas of study: transmission genetics, molecular genetics and population genetics.

What are the 5 branches of genetics? ›

Besides these major genetic branches, several others are biochemical genetics, physiological genetics, quantitative genetics, conservative genetics and behavior genetics.

What is gene easy words? ›

A gene is the basic physical and functional unit of heredity. Genes are made up of DNA. Some genes act as instructions to make molecules called proteins. However, many genes do not code for proteins. In humans, genes vary in size from a few hundred DNA bases to more than 2 million bases.

What are 5 facts about genetics? ›

Interesting Facts about Genetics

Humans share about 90% of genetic material with mice and 98% with chimpanzees. Nearly every cell in the human body contains a complete copy of the human genome. We get 23 chromosomes from our mother and 23 from our father. Some diseases are inherited through genes.

What are the 7 types of genetic tests? ›

Different types of genetic testing are done for different reasons:
  • Diagnostic testing. ...
  • Presymptomatic and predictive testing. ...
  • Carrier testing. ...
  • Pharmacogenetics. ...
  • Prenatal testing. ...
  • Newborn screening. ...
  • Preimplantation testing.
14 Apr 2020

What are the 2 main types of genes? ›

There are two types of molecular genes: protein-coding genes and noncoding genes.

What are the 10 genetic disorders? ›

Genetic disorders
  • Albinism. Albinism is a group of genetic conditions. ...
  • Angelman syndrome. A rare syndrome causing physical and intellectual disability. ...
  • Ankylosing spondylitis. ...
  • Apert syndrome. ...
  • Charcot-Marie-Tooth disease. ...
  • Congenital adrenal hyperplasia. ...
  • Cystic fibrosis (CF) ...
  • Down syndrome.

What is terms genotype? ›

In a broad sense, the term "genotype" refers to the genetic makeup of an organism; in other words, it describes an organism's complete set of genes. In a more narrow sense, the term can be used to refer to the alleles, or variant forms of a gene, that are carried by an organism.

What are the 10 vocabulary words? ›

Full list of words from this list:
  • atrocity. an act of shocking cruelty.
  • fanatical. marked by excessive enthusiasm for a cause or idea.
  • pensive. deeply or seriously thoughtful.
  • respite. a pause from doing something.
  • discordant. not in agreement or harmony.
  • eloquent. ...
  • encompass. ...
  • imperceptible.

What are the 100 common words? ›

The 100 most common words in English
1. the21. at61. some
4. a24. have64. make
5. to25. from65. like
6. in26. or66. him
7. is27. one67. into
15 more rows

What are the 5 types of vocabulary? ›

Types of vocabulary
  • Reading vocabulary.
  • Listening vocabulary.
  • Speaking vocabulary.
  • Writing vocabulary.
  • Final vocabulary.

What are 5 applications of genetics? ›

In medicine, genetic engineering has been used to mass-produce insulin, human growth hormones, follistim (for treating infertility), human albumin, monoclonal antibodies, antihemophilic factors, vaccines, and many other drugs.

What are the basics of genetics? ›

How We Get Our Genes. People get (inherit) their chromosomes, which contain their genes, from their parents. Chromosomes come in pairs and humans have 46 chromosomes, in 23 pairs. Children randomly get one of each pair of chromosomes from their mother and one of each pair from their father.

How many genetic types are there? ›

As of 2017, there are a total of 324 million known variants from sequenced human genomes. As of 2015, the typical difference between an individual's genome and the reference genome was estimated at 20 million base pairs (or 0.6% of the total of 3.2 billion base pairs).

What are the 6 types of DNA? ›

With each other, the nitrogen bases form a unit known as a "base pair," with A pairing with T and C pairing with G. Thus, the six components of DNA are deoxyribose sugar, phosphate, and four nitrogenous bases, i.e. adenine, guanine, thymine, and cytosine.

What is the shortest gene? ›

To our knowledge, mccA is the smallest gene so far reported. 7 . In contrast with these antibiotics, our results show that the MccC7 hepta- peptide does not derive from a larger translation product, it being directly synthesized as a propeptide.

What is DNA made of? ›

What is DNA made of? DNA is made of chemical building blocks called nucleotides. These building blocks are made of three parts: a phosphate group, a sugar group and one of four types of nitrogen bases. To form a strand of DNA, nucleotides are linked into chains, with the phosphate and sugar groups alternating.

What is the shape of a DNA? ›

Nucleotides are arranged in two long strands that form a spiral called a double helix. The structure of the double helix is somewhat like a ladder, with the base pairs forming the ladder's rungs and the sugar and phosphate molecules forming the vertical sidepieces of the ladder.

Who discovered DNA? ›

Many people believe that American biologist James Watson and English physicist Francis Crick discovered DNA in the 1950s. In reality, this is not the case. Rather, DNA was first identified in the late 1860s by Swiss chemist Friedrich Miescher.

What are 3 facts about genes? ›

Ten facts from the Human Genome Project
  • 1) There are between 30,000 and 40,000 genes in the human genome. ...
  • 2) A human being can be made from a gene count only twice as great as that of a fly or worm. ...
  • 3) We are not fruitflies or worms because some our genes work differently – we have more “control genes.”
11 Feb 2001

What are gene tests called? ›

There are two different kinds of large-scale genetic tests. Exome sequencing looks at all the genes in the DNA (whole exome) or just the genes that are related to medical conditions (clinical exome). Genome sequencing is the largest genetic test and looks at all of a person's DNA, not just the genes.

What are 7 genetic disorders? ›

Genetic Disorders
  • Genetic Disorders. Sickle Cell Disease.
  • Cystic fibrosis. Cystic Fibrosis Liver Disease.
  • Brain, Nerves and Spine. Huntington's Disease.
  • Cleft lip and palate. Cleft Lip and Palate.

What is karyotype test? ›

Karyotyping is a test to examine chromosomes in a sample of cells. This test can help identify genetic problems as the cause of a disorder or disease. Karyotyping is a test used to identify chromosome abnormalities as the cause of malformation or disease.

What are 2 alleles called? ›

Each pair of alleles represents the genotype of a specific gene. Genotypes are described as homozygous if there are two identical alleles at a particular locus and as heterozygous if the two alleles differ. Alleles contribute to the organism's phenotype, which is the outward appearance of the organism.

What are 2 copies of a gene called? ›

Each variation of a gene is called an allele (pronounced 'AL-eel'). These two copies of the gene contained in your chromosomes influence the way your cells work. The two alleles in a gene pair are inherited, one from each parent. Alleles interact with each other in different ways.

What are the 2 allele? ›

Alleles are described as either dominant or recessive depending on their associated traits.

Is ADHD genetic? ›

ADHD tends to run in families and, in most cases, it's thought the genes you inherit from your parents are a significant factor in developing the condition. Research shows that parents and siblings of someone with ADHD are more likely to have ADHD themselves.

What are 3 genetic birth defects? ›

Chromosomal Abnormalities

Many zygotes that carry such abnormalities do not develop into embryos, but among those that are carried to term, trisomy 21 (Down syndrome), trisomy 13 (Patau syndrome), and trisomy 18 (Edwards syndrome) are the most frequent birth defects.

What are 2 common hereditary diseases? ›

5 Common Inherited Health Conditions and Their Symptoms
  • Heart Disease. It's no surprise that heart disease is part of the list, considering it's the top cause of death in the United States. ...
  • Asthma. ...
  • Diabetes. ...
  • Single Gene Disorders. ...
  • Cancer.

What are the 5 types of genotype? ›

A blood genotype indicates the genetic makeup of an individual's blood in its entirety. Typically, there are five (5) distinct types of blood genotype. They are AA, AS, AC, SS, and SC.

What does homozygous mean? ›

(HOH-moh-ZY-gus JEE-noh-tipe) The presence of two identical alleles at a particular gene locus. A homozygous genotype may include two normal alleles or two alleles that have the same variant.

What does F F mean in genetics? ›

Your Alpha-1 genotype is FF. This means that you have two copies of the F mutation in your Alpha-1 genes. This is a rare form of alpha-1 antitrypsin deficiency.

Are Okazaki fragments? ›

What are Okazaki Fragments For? Okazaki fragments are short sections of DNA formed at the time of discontinuous synthesis of the lagging strand during replication of DNA. It is essential as it allows for the synthesis of both the daughter strands required for cell division.

What are the 4 stages of DNA profiling? ›

The DNA testing process is comprised of four main steps, including extraction, quantitation, amplification, and capillary electrophoresis.

What is the vocabulary term for genotype? ›

Definitions of genotype. the particular alleles at specified loci present in an organism. synonyms: genetic constitution. type of: composition, constitution, make-up, makeup, physical composition. the way in which someone or something is composed.

What are the most important words in biology? ›

Important Terms of Biology
  • algae - simple aquatic plant.
  • allele - the forms of a gene that can mutate.
  • amoeba - single-celled animal free-living in parasitic and damp environments.
  • bacteria - large unicellular organisms that can cause disease.
  • biodiversity - various organisms and life in a habitat or ecosystem.

What is the main importance of genetics? ›

Understanding genetic factors and genetic disorders is important in learning more about promoting health and preventing disease. Some genetic changes have been associated with an increased risk of having a child with a birth defect or developmental disability or developing diseases such as cancer or heart disease.

What 5 words can you relate to biology? ›

  • analysis.
  • biology.
  • cytology.
  • diagnosis.
  • dissection.
  • division.
  • embryology.
  • etiology.

What is the vocabulary of phenotype? ›

phenotype. / (ˈfiːnəʊˌtaɪp) / noun. the physical and biochemical characteristics of an organism as determined by the interaction of its genetic constitution and the environmentCompare genotype.

What is phenotype term? ›

(FEE-noh-tipe) The observable characteristics in an individual resulting from the expression of genes; the clinical presentation of an individual with a particular genotype.

What is the term for alleles? ›

(uh-LEEL) One of two or more DNA sequences occurring at a particular gene locus. Typically one allele (“normal” DNA sequence) is common, and other alleles (mutations) are rare.

What is the hardest word in biology? ›

Biology Word Dissections - Pneumonoultramicroscopicsilicovolcanoconiosis. Yes, this is an actual word.

What is the longest word in biology? ›

Therefore, it might come as no surprise that science apparently owns the longest word ever published in a major dictionary. In 45 letters, "Pneumonoultramicroscopicsilicovolcanoconiosis" describes "a disease caused by the inhalation of very fine silica dust, causing inflammation in the lungs."

Who discovered genes? ›

In the 19th century, it was commonly believed that an organism's traits were passed on to offspring in a blend of characteristics 'donated' by each parent.

What are 5 genetic diseases? ›

Genetic Disorders
  • Genetic Disorders. Sickle Cell Disease.
  • Cystic fibrosis. Cystic Fibrosis Liver Disease.
  • Brain, Nerves and Spine. Huntington's Disease.
  • Cleft lip and palate. Cleft Lip and Palate.

What are the 10 words related to research? ›

  • analysis.
  • exploration.
  • inquiry.
  • investigation.
  • probe.
  • delving.
  • experimentation.
  • groundwork.

What starts with F in biology? ›

  • F1 Generation.
  • Facilitated Diffusion.
  • Facultative Anaerobe.
  • Fat.
  • Fatty Acids.
  • Fauna.
  • Fecundity.
  • Feedback Inhibition.

What is terminology in biology? ›

terminology. 1. (Science: study) The doctrine of terms; a theory of terms or appellations; a treatise on terms. 2. The terms actually used in any business, art, science, or the like; nomenclature; technical terms; as, the terminology of chemistry.


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