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Transcription
DNA to RNA
Translation
mRNA to protein
phenotype
physical characteristics of cell
allele
different forms of a gene at a given genetic locus
locus
the specific site on a chromosome where a gene is located
Gene
provides information to its carriers, with respect to biological structure and function
DNA
primary molecule for storing genetic information
Central Dogma
main avenue for accessing information
Anaxagoras
Pre-Mendelian concept that the male is the main information carrier
Hippocrates
Pre-Mendelian concept of pangenesis
Spontaneous generation
life can arise spontaneously from decaying matter
Preformationism
the concept that a tiny, preformed organism was transmitted from generation to generation
Spermatists
little humans "humunculi" present in sperm
Ovists
preformed individuals present in eggs
Epigenesis
concept during late 18th-19th century; tissues and organs appear during development that are not originally present in the embryo
Unit inheritance
factors are discrete and particulate entities; not mixed or diluted during inheritance
Principle of Segregation
the paired factors segregate (separate) from each other in the formation of gametes
Principle of Independent Assortment
parental factors segregate at random; if 2 sets of factors are followed in the same cross, each gene pair segregates independently of the other
genotype
the actual gene complement of an individual, usually with regard to homozygosity or heterozygosity for a given gene pair
August Weismann
Studied early insect embryogenesis and showed that a population of cells arose early in development and gave rise to the gametes
Germplasm Theory
cells set aside early for formation of germ line - special cells give rise to next generation. Differ from somatic cells in division properties. Reductional division
Autosome
non-sec chromosome
Autosomal Dominant Inheritance
If one parent is affected, 1/2 of progeny will inherit trait and be affected
Autosomal Dominant
Achondroplasia: a form of short-limbed dwarfism
Autosomal Recessive Inheritance
Aa x Aa, 1/4 of progeny will be affected; trait appears to skip generations
Wild-type allele
most common allele in society
Mitosis
daughter cells retain diploid (2n) information content
Meiosis
gametes contain haploid (n) information content
Oogenesis
single meiotic division event which gives rise to a single oocyte
Spermatogenesis
single meiotic division event which gives rise to a single oocyte
nondisjunction
errors in meiosis
karyotype
chromosomal composition
XO
male fruitfly karyotype
XXY
female fruitfly karyotype
Sex determining region (SRY)
gene located on Y chromosome that is involved in programming male determination early in embryogenesis
male phenotype, Klinefelter Syndrome
XXY in humans
female phenotype, Turner Syndrome
XO phenotype in humans
X-linked Recessive Inheritance
X+Xh / X+Y is most common marriage that will show affected progeny. Half of males affected, half of females carriers. X+X+ / XhY then all females will be carriers and all males will be normal
X-linked Recessive Examples
Duchenne Muscular Dystrophy, Hemophilia A
X-linked Dominant Inheritance
X+X+ / XDY is most common marriage. All females will be affected and all males will be norman
X-linked Dominant Example
hypophosphatemia
Holandric inheritance
y-linked inheritance, males pass on the trait to all males
Sex-Limited Trait
inherited as an autosomal dominant, but only one sex shows trait
Sex-Influenced Inheritance
phenotype is more pronounced in one sex relative to the other sex, ex: pattern baldness
Chi Square Formula
a statistical test to measure closeness of fit between observed and predicted data

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