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Genetics & Genomics (GC 545) > Genetics Vocabulary > Flashcards

Genetics Vocabulary Flashcards

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1
Q

Allele

A
  • One of two or more versions of a gene

- An individual inherits two alleles for each gene, one from each parent

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2
Q

Autosome

A
  • Any of the numbered chromosomes (doesn’t include sex chromosomes)
  • Humans have 22 pairs of autosomes
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3
Q

Carrier

A
  • 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
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4
Q

Cytogenetics

A
  • 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
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5
Q

DNA

A
  • Deoxyribonucleic Acid

- The molecule that carries genetic instructions in all living things

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6
Q

DNA Sequencing

A

A laboratory technique used to determine the exact sequence of bases (A, C, G, and T) in a DNA molecule

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7
Q

Deletion

A

-A type of mutation involving the loss of genetic material

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8
Q

Dominant

A

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)

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9
Q

First Degree Relative

A
  • A family member who shares about 50 percent of their genes with a particular individual in a family
  • Parents, children, & siblings
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10
Q

Gene

A
  • The basic physical unit of inheritance

- Arranged to form chromosomes

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11
Q

Genotype

A
  • An individual’s collection of genes

- The two alleles inherited for a particular gene

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12
Q

Heterozygote

A

-An individual who inherited different forms of a particular gene from each parent (different alleles)

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13
Q

Homozygote

A

-An individual inherited the same alleles for a particular gene from both parents

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14
Q

Karyotype

A
  • An individual’s collection of chromosomes

- Also A laboratory technique that produces an image of an individual’s chromosomes

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15
Q

Loci (Locus)

A
  • The specific physical location of a gene or other DNA sequence on a chromosome
  • Like a genetic street address
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16
Q

Mutation

A
  • 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
17
Q

Meiosis

A
  • The formation of egg and sperm cells (germ cells)

- Results in 4 sex cells

18
Q

Mitochondrial DNA

A
  • Small circular chromosome found inside mitochondria (found in cells that are the sites of energy production)
  • Passed from mother to offspring
19
Q

Nucleic Acid

A
  • Functions: Have to do with the storage and expression of genetic information
  • Include DNA & RNA
20
Q

Oncogene

A

A mutated gene that contributes to the development of a cancer

21
Q

Pharmacogenetics

A

-A branch of pharmacology that uses DNA and amino acid sequence data to inform drug development and testing

22
Q

Phenotype

A
  • An individual’s observable traits

- Ex: height, eye color, and blood type

23
Q

Point Mutation

A
  • 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
24
Q

Proband

A
  • 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
25
Q

Recessive

A

-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

26
Q

RNA

A
  • ​Recombinant DNA

- A technology that uses enzymes to cut and paste together DNA sequences of interest

27
Q

Sex limited

A
  • Genes that are present in both sexes but are expressed in only one sex
  • Both sexes have different phenotypes but same genotype
28
Q

Single Nucleotide Polymorphism

A
  • SNPs

- A type of polymorphism involving variation of a single base pair

29
Q

Tumor Suppressor Genes

A
  • 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
30
Q

X-Linked

A
  • 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
31
Q

Polymorphism

A
  • A place in the DNA sequence where there is variation

- A large section of the base pairs on a DNA strand are incorrect

Genetics & Genomics (GC 545) (30 decks)

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