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PHGX 8080 - Human Genetics > 2. Molecular Genetics > Flashcards

2. Molecular Genetics Flashcards

1
Q

Cytogenetics

A

study of chromosomes and karyotypes

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2
Q

Karyotype

A

set of chromosomes in cells, image of chromosomes

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3
Q

Chromatid

A

one “copy” of a chromosome, formed from chromatin

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4
Q

Sister chromatids

A

identical copies of a chromosome, two are present to form one “chromosome,” only present during meiosis/mitosis

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5
Q

Haploid

A

half of the chromosomes in a cell, 23 in gametes, do not have homologous pairs

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6
Q

Diploid

A

all of the chromosomes in a cell, 46 in human cells, have homologous pairs

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7
Q

p

A

short arm

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8
Q

q

A

long arm

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9
Q

Euchromatin

A

light spots on chromosome, more expressed

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10
Q

Heterochromatin

A

dark spots on chromosome, less expressed

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11
Q

Centromere

A

center of chromosome

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12
Q

Telomeres

A

ends of chromosomes, slowly shorten throughout life and lead to aging

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13
Q

Telocentric

A

centromere at the telomeres, not seen in humans

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14
Q

Acrocentric

A

centromere slightly below telomeres, looks like telocentric on karyotype

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15
Q

Submetacentric

A

centromere just above the center

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16
Q

Metacentric

A

centromere in the middle

17
Q

Nucleotide

A

phosphate group, sugar base, nitrogenous base

18
Q

DNA

A

complementary, antiparallel, double-helix

19
Q

Antiparallel

A

one strand runs 5’-3’, other strand runs 3’-5’

20
Q

Nucleosome

A

DNA wrapped around histones

21
Q

Chromatin

A

stacked nucleosomes

22
Q

Chromosome

A

DNA separated into different parts

23
Q

DNA Polymerase

A

builds 5’-3’, so will build off of DNA strand that reads 3’-5’

24
Q

Helicase

A

unwinds DNA

25
Q

Okazaki fragment

A

lagging strand in DNA replication, DNA polymerase can only build one way and towards the replication fork, forming fragments

26
Q

Central Dogma

A

DNA –> RNA –> Protein

27
Q

Exons

A

sections of DNA that get expressed in mRNA strand, code for protein

28
Q

Introns

A

noncoding regions of DNA, get spliced out after transcription, do not code for a protein

29
Q

Hybrid chromosomes

A

chromosomes with DNA from both parents, due to crossover during meiosis

30
Q

Crossover

A

when homologous chromosomes overlap and exchange DNA, results in genetic diversity

31
Q

Linkage maps

A

can determine which traits don’t follow law of independent assortment

PHGX 8080 - Human Genetics (4 decks)

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