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heredity
the transmission of traits from one generation to the next
genetics
the scientific study of heredity
character
heritable feature that varies among individuals (e.g. eye pigmentation)
trait
variant for a character (e.g. less melanin – blue or green eyes)
Gregor Mendel
identified the fundamental principles of genetics in the 1850s and 1860s at an abbey in Austria (now part of Czech Republic)
alleles
version of genes
For each character, an organism inherits 2 of these of a gene, one from each parent
homozygous
two identical alleles for a gene
E.g. AA or aa
heterozygous
two different alleles for a gene
E.g. Aa
dominant allele
If the 2 alleles are different, then one determines the organism’s appearance
recessive allele
has no noticeable effect on the organism’s appearance
law of segregation
you have 2 alleles for each gene, but your gametes only have 1
Meiosis I: homologous chromosomes separate, so the allele pairs separate (one allele on each)
Meiosis II: each individual allele is packaged into gamete cells (sperm and egg)
Fertilization creates new allele pairings, one inherited from sperm and one from egg
allele pairs
are created when gametes combine at fertilization
homologous chromosomes
have the same genes at the same locations (loci)
the gene alleles (versions) may be the same or different
Every diploid cell has matching pairs of these
Punnett squares
help visualize the probability of offspring inheriting a combination of alleles (and phenotypic trait) based on the parents’ genotypes
genotype
genetic information
phenotype
observable physical trait
Homozygous Dominant
ex.~ BB
Heterozygous
ex.~ Bb
Homozygous recessive
bb
Law of independent assortment
the inheritance of one character has no effect on the inheritance of another character
Exception
linked genes located close together on the same chromosome tend to be inherited together
Recessive Disorder
both alleles must be recessive
Remember that the dominant phenotype results from the presence of at least one dominant allele
In order to have and express a recessive disorder, you must have two recessive alleles (homozygous recessive; aa)
People who are heterozygous are carriers of the recessive allele for the disorder
Carriers are not affected by the disorder! There is a chance they can pass a recessive allele to a child
carriers
People who are heterozygous are this of the recessive allele for the disorder