Genetics Vocabulary Flashcards
Allele
- One of two or more versions of a gene
- An individual inherits two alleles for each gene, one from each parent
Autosome
- Any of the numbered chromosomes (doesn’t include sex chromosomes)
- Humans have 22 pairs of autosomes
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 usually associated w/ carrying a recessive trait
Cytogenetics
- The branch of genetics that studies the structure of DNA within the cell nucleus
- Studies the number and morphology of chromosomes
- Uses chromosome banding techniques or hybridization fluorescently labeled probes
DNA
- Deoxyribonucleic Acid
- The molecule that carries genetic instructions in all living things
DNA Sequencing
A laboratory technique used to determine the exact sequence of bases (A, C, G, and T) in a DNA molecule
Deletion
-A type of mutation involving the loss of genetic material
Dominant
A particular variant of a gene that expresses itself more strongly all by itself than any other version of the gene which the person is carrying (recessive)
First Degree Relative
- A family member who shares about 50 percent of their genes with a particular individual in a family
- Parents, children, & siblings
Gene
- The basic physical unit of inheritance
- Arranged to form chromosomes
Genotype
- An individual’s collection of genes
- The two alleles inherited for a particular gene
Heterozygote
-An individual who inherited different forms of a particular gene from each parent (different alleles)
Homozygote
-An individual inherited the same alleles for a particular gene from both parents
Karyotype
- An individual’s collection of chromosomes
- Also A laboratory technique that produces an image of an individual’s chromosomes
Loci (Locus)
- The specific physical location of a gene or other DNA sequence on a chromosome
- Like a genetic street address
Mutation
- A change in a DNA sequence
- Can be caused by: copying mistaking during cell division, exposure to ionizing radiation, exposure to mutagens, or infection by viruses
Meiosis
- The formation of egg and sperm cells (germ cells)
- Results in 4 sex cells
Mitochondrial DNA
- Small circular chromosome found inside mitochondria (found in cells that are the sites of energy production)
- Passed from mother to offspring
Nucleic Acid
- Functions: Have to do with the storage and expression of genetic information
- Include DNA & RNA
Oncogene
A mutated gene that contributes to the development of a cancer
Pharmacogenetics
-A branch of pharmacology that uses DNA and amino acid sequence data to inform drug development and testing
Phenotype
- An individual’s observable traits
- Ex: height, eye color, and blood type
Point Mutation
- When a single base pair is altered, can have 1 of 3 effects:
- Can be silent - altered codon corresponds to the same amino acid
- Missense mutation - altered codon corresponds to a different amino acid
- Nonsense mutation where the altered codon corresponds to a stop signal
Proband
- An individual being studied due to a genetic disorder
- Usually the first affected individual in a family who brings a genetic disorder to the attention of the medical community
Recessive
-A type of allele that will not be manifested in an individual unless both of the individual’s copies of that gene have that particular genotype
RNA
- Recombinant DNA
- A technology that uses enzymes to cut and paste together DNA sequences of interest
Sex limited
- Genes that are present in both sexes but are expressed in only one sex
- Both sexes have different phenotypes but same genotype
Single Nucleotide Polymorphism
- SNPs
- A type of polymorphism involving variation of a single base pair
Tumor Suppressor Genes
- Genes make proteins that act like brakes within the cell to regulate cell division
- If they are lost or mutated cell division isn’t regulated, this contributes to the development of cancer
X-Linked
- A trait where a gene is located on the X chromosome
- Usually affects males because they only have 1 X chromosome, females typically have a healthy 2nd X chromosome that masks the mutation
Polymorphism
- A place in the DNA sequence where there is variation
- A large section of the base pairs on a DNA strand are incorrect