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gene
functional units of DNA
locus
exact location of a gene on a chromosome
allele
homologous copies of a gene
inherit 2 alleles for each gene; 1 from mom, 1 from dad
46 chromosomes, 23 pairs; 22 autosomal pairs, 1 sex pair
genotype
genetic makeup
phenotype
physical, observable characteristics
karyotype
complete set of chromosome
homozygote
individual with identical alleles ex. AA or aa
heterozygote
individual with different alleles ex. Aa
dominant
traits that require only 1 copy of a factor for it to be expressed
recessive
traits that require 2 copies of a factor for it to be expressed
mutation/variant
change from reference DNA sequence
autosomal dominant
vertical pattern
multiple generations affected bc only takes one copy to express phenotype
examples of autosomal dominant diseases
huntington’s disease, neurofibromatosis, marfan syndrome, osteogenesis imperfecta
autosomal recessive
horizontal pattern
inheritance from carrier parents
parents may not display abnormal phenotype
examples of autosomal recessive diseases
cystic fibrosis, sickle cell anemia, thalassemia
codominance
both alleles expressed in phenotype
x-linked inheritance
mostly vertical pattern, but may skip a generation
most are recessive
males are more severely affected because they only need one mutant allele to display phenotype
males = hemizygous; cannot be heterozygous or homozygous
no male to male transmission
x-linked dominant
less common
if father is affected, all daughters will be affected
if ONLY father is affected (mother unaffected), son will not be affected
ex. hypophosphatemic rickets, rett syndrome
x-linked recessive
more common
ex. colorblindness, hemophilia A, duchenne muscular dystrophy, becker’s muscular dystrophy, G6PD deficiency
mitochondrial
can only come from the mother
if affected mother, will pass down to ALL offspring
males do not transmit mutation
ex. leber’s hereditary optic neuropathy, leigh syndrome
transcription
DNA → mRNA
translation
mRNA → proteins
germinal variant
genetic change that occurs during egg or sperm formation
before fertilization
inherited from parents
ex. radiation, chemical mutagen
somatic variant
genetic change that occurs after conception
during embryogenesis or adulthood
not inherited from parents
usually environmental
non-disjunction
chromosomes don’t separate properly during meiosis
results in loss or gain of chromosome
monosomy - 1 instead of 2
polysomy - 3 or more instead of 2
trisomy - 3 instead of 2 (most common)
trisomy 13
patau syndrome
trisomy 18
edward’s syndrome
trisomy 21
down syndrome
XXY
kleinfelter syndrome
XYY
polysomy Y
XXX
trisomy X
X0
turner syndrome
translocation/inversion
rearrangement of chromosome arms of non-homologous chromosomes
deletion
loss of chromosomal material (partial)