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Genotype
An organism's genetic makeup, or allele combinations.
Phenotype
An organism's physical appearance, or visible traits.
Alleles
alternative versions of a gene
dominant allele
An allele whose trait always shows up in the organism when the allele is present.
recessive allele
An allele that is masked when a dominant allele is present
Homozygous
An organism that has two identical alleles for a trait (HH/hh)
heterozygous
An organism that has two different alleles for a trait, one dominant and one recessive (Hh)
Gametes
reproductive cells; egg or sperm
Pedigree
A diagram that shows the occurrence of a genetic trait in several generations of a family.
autosome
Any chromosome that is not a sex chromosome
sex chromosomes
X and Y chromosomes.
autosomal dominant
inheritance pattern of a dominant allele on an autosome; like NF1 or FH
autosomal recessive
two copies of an abnormal gene must be present in order for the disease or trait to develop; like sickle cell anemia
Punnett Square
A chart that shows all the possible combinations of alleles that can result from a genetic cross
Karyotype
A display of the chromosome pairs of a cell arranged by size and shape.
Meiosis
Cell division that produces reproductive cells in sexually reproducing organisms
meiosis 1
Homologous chromosomes separate
meiosis 2
sister chromatids separate
Nondisjunction
the failure of one or more pairs of homologous chromosomes or sister chromatids to separate normally during nuclear division, usually resulting in an abnormal distribution of chromosomes in the daughter nuclei and a child with monosomy or trisomy
gel electrophresis
procedure used to separate and analyze DNA fragments by placing a mixture of DNA fragments at one end of a porous gel and applying an electrical voltage to the gel