Molecular Diagnostics: Module 1 Flashcards


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1

Gregor Mendel

"Father of Genetics"; described genetic traits

2

Johann Mescher

isolated nuclein in 1868

3

Thomas Hunt Morgan

showed units of heredity (genes) were located on chromosomes in 1911

4

Phoebus Levene

identified the chemical components of DNA in 1929

5

Erwin Chargaff

found that the number of purines is equal to the number of pyrimidines in 1950 (A+G)/(T+C)=1

6

Rosaline Franklin

generated original x-ray diffraction data leading to discover of structure of DNA

7

James Watson and Francis Crick

pieced together structure of DNA and built model in 1953

8

Restriction Enzymes

shown to cleave DNA into fragments

9

Southern Blot

allowed for detection of DNA fragments and sequences in 1975

10

polymerase chain reaction

described in 1985 which led to microarray technology in 1996

11

human genome project

began in 1990 to understand radiation effects leading to identifying 25,000 genes

12

prokaryote

has no nucleus, single copy of DNA (haploid), conjugation and DNA exchange; includes bacteria, viruses, spirochetes

13

eukaryote

nucleated with cytoplasmic organelles, double cope of DNA (diploid), exons and introns

14

autosome

non-sex chromosome

15

exon

translated portion of eukaryotic gene (coding portion of gene)

16

intron

non-translated intervening sequence of eukaryotic gene (junk DNA)

17

genome

complete set of genetic instructions for an organism; complete blueprint for reproduction

18

chromosome

nuclear "colored body"; nucleic acid polymers that encode genes

19

gene

unit of inheritance; one encodes one protein; sequence of DNA bases

20

histone

proteins around which chromosomes fold

21

diploid

DNA that has two copies or pairs of homologous chromosomes; humans: 46 chromosomes, 6 billion base pairs per cell

22

haploid

found in gametes which have 1 copy of each chromosomes; humans: 23 chromosomes, 3 billion base pairs per cell

23

locus

a gene or region of DNA

24

allele

alternate form of a gene at a locus on a chromosome; one copy from each parent: homozygous, heterozygous

25

phenotype

a trait or group of traits resulting from transcription and translation of these genes; observed expression of genotype

26

genotype

the DNA nucleotide sequence responsible for a phenotype; the alleles at a given locus for an individual

27

mutation

a DNA sequence change that is present in a relatively small proportion (<1%) of a population

28

polymorphism

a change in DNA sequence that is present in at least 1-2% of a population

29

Central Dogma

expresses transfer of information; includes replication, transcription, and translation

30

Francis Crick

proposed the central dogma in 1953

31

replication

reproduction of DNA into double-stranded nucleotides that provides a genetic code in the form of the bases: A, T, G, and C; where DNA produces daughter strands with DNA as the starting material and reproduces its own genetic code

32

transcription

...

33

translation

...

34

Deoxyribonucleic acid

double-stranded nucleotide polymers providing ATGC genetic codes

35

Ribonucleic acid

single-stranded nucleotide polymers providing AUGC template

36

molecular pathology

testing which is based upon the detection of nucleic acids (DNA and RNA) as opposed to protein (enzymes and antibodies)

37

nucleosides

comprised of a ribose sugar and a nitrogen base

38

nucleotides

polymers which DNA is made from; phosphorylated nucleosides

39

pyimidine or purine

makes up the base

40

ribose or deoxyribose

makes up the pentose sugar

41

pyrimidines

single ring nitrogenous bases with a hexagonal structure with nitrogen present at positions 1 and 3; includes thymine, cytosine, and uracil (cytidine, thymidine, uridine)

42

purines

hexagonal structure with a pentagon at positions 4 and 5 of hexagon and carbons at positions 2 and 6; adenine and guanine (adenosine and guanosine)

43

uracil

replaces thymine in RNA molecule

44

ribose

...

45

deoxyribose

...

46

pentoses

5-carbon sugars which are numbered clockwise starting with one on upper right

47

hydrogen bonds

how base pairs bind together

48

A:T

pair contains two hydrogen bonds

49

G:C

pair contains three hydrogen bonds

50

covalent bonds

binds phosphate to molecule

51

kcal

the amount of energy it would take to break the bonds

52

anealing

DNA is heated and separated, then recombined in the double-stranded form

53

polarity

describes the orientation of the DNA strand with reference to the 5'-phosphate and 3'phosphate groups

54

B-DNA

most common form of DNA; right-hand helix

55

A-DNA

compact form of right-hand DNA helix; produced in vitro

56

Z-DNA

left-hand helix 12 base pairs per turn; results from stressful conditions

57

double stranded DNA

consists of deoxyribose, phosphate, nitrogenous bases, pyrimidines (thymine and cytosine) and purines (adenine and guanine)

58

single stranded RNA

consists of ribose, phosphate, nitrogenous bases, pyrimidines (uracil and cytosine) and purines (adenine and guanine)

59

polymerase

catalyze formation of the phosphodiester bond

60

helicase

unwind and untangle to form replication forks

61

primase

synthesizes a short ribonucleic acid (RNA) to prime DNA synthesis

62

methylases

add methyl groups to nitrogen bases

63

deaminases

take amino groups from nitrogen bases

64

nucleases

cut DNA

65

ligases

catalyze formation of a single phosphodiester bond