1 Intro to Genetics

  1. Allele
    particular copy of a gene on a chromosome
  2. Karyotype
    arrangement of the chromosomes or the description of the karyotype
  3. Constitutional
    a change present at birth, in all or some cells
  4. Congenital
    a change present at birth, often before birth (usually genetic)
  5. Pathogenetic
    genetic alteration causing disease
  6. Somatic
    occurring in the body, but not in the gametes; therefore can't be passed on to offspring

    subpopulations of cells that occur at places in the body but not in the gametes
  7. Germline
    • • occurring in the testis or ovary
    • • can be passed on to offspring
    • • everywhere else is normal, but testes or ovaries have a mix of cells
  8. Obligate Carrier
    the parent of a child with a recessive condition
  9. Mosaicism
    two or more cell lines in one person
  10. Chimera
    mix of cells from two individuals (eg. females that get male marrow after a bone marrow transplant = chimera)
  11. Acquired
    a change that happens after birth, usually associated with cancer
  12. Pedigree Nomenclature
    • • male: square
    • • female: circle
    • • sex unspecified: diamond
    • • proband: lower left arrow
    • • deceased: line slashed
    • • affected with trait: symbol filled in
    • • carrier: dot
    • • asymptomatic carrier (AD): vertical line
    • • adopted: brackets
    • • consanguinity: double joining line
    • • pregnancy: P
    • • miscarriage: triangle
    • • preg termination: slash through a triangle
    • • stillbirth: deceased slash with SB underneath
    • Image Upload 1
  13. Dizygotic Twins
    boy & a girl
  14. Monozygotic Twins
    same sex twins
  15. Once Removed
    cousins, but displaced by a generation

    Image Upload 2
  16. Consanguinity
    • individuals descended from a common ancestor

    • 2nd cousin or closer in genetics

    • 20% of world in a consanguineous marriage
  17. Gene Segregation
    • each gene occupies a specific place (locus) on a chromosome
    • in most cell in the body there are two alleles at each locus - one maternal, one paternal
    • during meiosis one chromosome from each pair goes to the germ cell
    • genes close together on a chromosome tend to be inherited as a block
    • genes on different chromosome sort independently
Card Set
1 Intro to Genetics
Genetics Exam 1