EEE

Cards (21)

  • A type of interaction between genes in which the genotype at one locus masks the phenotype or expression of an allele of another gene/locus.
    Epistasis
  • A section of DNA in a gene that codes for the amino acids of a protein product. After intervening intron sequences have been removed,___ are spliced together to form mature messenger RNA. This messenger RNA (or mRNA) is then translated into a protein.

    Exon
  • The phenotypic outcome produced by transcription and translation of a gene; the way in which a gene manifests as a phenotype.
    Expression (of a gene)
  • An allele is described as being in a population when it is the only allele for a given gene present in the population. In other words, all individuals in the population will be homozygous for that variant.
    Fixed
  • A sequence of DNA occupying a particular fixed location (locus) on a chromosome. For those genes that code for proteins, the sequence of DNA comprising a gene directs the synthesis of the protein product. Genes are the basic unit of heredity.

    Gene
  • The insertion or deletion of base pairs in a DNA sequence, in which the number of added or deleted base pairs is not a multiple of three, thus shifting the triplet reading frame of the gene product (protein). This results in the synthesis of a protein with amino acids different from those normally specified by the gene.
    Frameshift mutation
  • An organism's complete DNA sequence found in one set of its chromosomes. This includes the DNA that makes up the 20,000+ genes of mammals as well as all non-coding regions of DNA.
    Genome
  • An organism’s set of genes; the genetic makeup of that organism. In practice and in the context of genetic testing, the term “genotype” is used to reference a particular gene of interest and to specify for the individual being tested what alleles are present at that locus.

    Genotype
  • Cells that pass on genetic information from one generation to the next. Specifically, egg and sperm cells are called germ cells while all other cells of the body are called somatic cells.
    Germ line
  • A ____ is defined as a combination of alleles being inherited together; a set of DNA polymorphisms found on the same chromosome.
    Haplotype
  • occurs when there is more than one type of mitochondrial DNA (mtDNA) in an individual
    Heteroplasmy
  • Possessing two different alleles at a particular locus
    Heterozygous
  • Possessing identical alleles at a particular locus. In diploid organisms, which have two copies of each autosomal gene, this means possessing two copies of the same variant

    Homozygous
  • A trait is incompletely dominant when the phenotype is dependent on how many copies of the variant allele is present. In other words the phenotype is different if there are zero, one, or two copies of the allele. Typically the heterozygotes have an intermediate phenotype between the two homozygous conditions

    Incomplete Dominance
  • Conditions or traits with incomplete penetrance will be expressed in only some of the individuals who possess the trait-associated allele; some individuals with the allele may never express the trait.

    Incomplete penetrance
  • The addition of DNA base pairs to an existing DNA sequence. Insertions may be as small as a single base pair or as large as an entire section of chromosome that encompasses multiple genes.

    Insertion
  • A section of DNA in a gene that does not code for protein. Introns are intervening sequences between the coding regions of genes, which are called exons. The non-coding introns are spliced out of pre-messenger RNA, leaving only coding exons in the resulting messenger RNA. Each gene may contain multiple introns.

    Intron
  • A mutation that occurs in the intron, or portion of a gene that does not code for a protein
    Intronic mutation
  • A lethal mutation causes premature death of an organism. Lethal mutations may lead to mortality at any stage of an organism's development, including after birth, but often act in the early stages of embryonic or fetal development.

    Lethal mutation (lethal allele)
  • A genotype is considered embryonic lethal if it causes termination of embryonic development. Some individuals with embryonic lethal mutations can survive to term but are nonviable.

    Embryonic lethal
  • The location of a particular gene on a chromosome. Plural is loci.
    Locus