Lecture 1 - genetics/genomics

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34 Terms

1

gene

functional units of DNA

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2

locus

exact location of a gene on a chromosome

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3

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

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4

genotype

genetic makeup

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5

phenotype

physical, observable characteristics

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6

karyotype

complete set of chromosome

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7

homozygote

individual with identical alleles ex. AA or aa

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8

heterozygote

individual with different alleles ex. Aa

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9

dominant

traits that require only 1 copy of a factor for it to be expressed

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10

recessive

traits that require 2 copies of a factor for it to be expressed

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11

mutation/variant

change from reference DNA sequence

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12

autosomal dominant

vertical pattern

multiple generations affected bc only takes one copy to express phenotype

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13

examples of autosomal dominant diseases

huntington’s disease, neurofibromatosis, marfan syndrome, osteogenesis imperfecta

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14

autosomal recessive

horizontal pattern

inheritance from carrier parents

parents may not display abnormal phenotype

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15

examples of autosomal recessive diseases

cystic fibrosis, sickle cell anemia, thalassemia

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16

codominance

both alleles expressed in phenotype

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17

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

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18

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

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19

x-linked recessive

more common

ex. colorblindness, hemophilia A, duchenne muscular dystrophy, becker’s muscular dystrophy, G6PD deficiency

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20

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

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21

transcription

DNA → mRNA

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22

translation

mRNA → proteins

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23

germinal variant

genetic change that occurs during egg or sperm formation

before fertilization

inherited from parents

ex. radiation, chemical mutagen

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24

somatic variant

genetic change that occurs after conception

during embryogenesis or adulthood

not inherited from parents

usually environmental

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25

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)

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26

trisomy 13

patau syndrome

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27

trisomy 18

edward’s syndrome

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28

trisomy 21

down syndrome

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29

XXY

kleinfelter syndrome

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30

XYY

polysomy Y

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31

XXX

trisomy X

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32

X0

turner syndrome

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33

translocation/inversion

rearrangement of chromosome arms of non-homologous chromosomes

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34

deletion

loss of chromosomal material (partial)

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