Chap. 10: Molecular Diagnostics Flashcards

You may prefer our related Brainscape-certified flashcards:
1
Q

Compacted into chromosomes and bound to basic proteins.

A

Helical human DNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Bound to basic proteins

A

histones

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

DNA + histone complex is called?

A

chromatin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

The human nucleus contains ___ chromosomes.

A

46

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Humans have two copies of each chromosome, a condition called?

A

Diploid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Two types of chromosomes are:

A

Somatic
Sex

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Somatic: ___ pairs
Sex: ___, ___

A

22 pairs
X or Y, XX (F), XY (Male)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Coding parts of a gene.

A

Exons

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Exons are ________ sequences.

A

expressed

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Noncoding regions of a gene are called?

A

Introns

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Introns are _______ sequences.

A

intervening

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

They can contain regulatory/transcriptional elements and have other functions.

A

Introns

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Approximately ___% of all human genes have multiple allelic forms called ___________?

A

25
polymorphisms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Refers to a different version or form of a gene or noncoding region.

A

Allele

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Highly polymorphic which codes for peptides that establish self-identity of the immune system.

A

Human Leukocyte Antigen (HLA)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Physical locations or positions of a gene or noncoding region on a chromosome.

A

Loci

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Lack a nucleus and nuclear membrane.

A

Procaryotes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

___% coding sequence.
___% noncoding sequence.

A

95
5

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Extrachromosomal DNA containing nonessential genetic information.

A

Plasmids

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Circular genome of approx. _______ base pairs, inherited _________.

A

16,600
maternally

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

mtRNA contains:
___ tRNA
___ rRNA
___ genes coding for oxidation-phosphorylation components.

A

22
2
12

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Mutations in genes coding for oxidation-phosphorylation are responsible for ___________ and ___________.

A

neuropathies
myopathies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

noncoding regions: ___ bp
hypervariable I regions: ___ bp
hypervariable II regions: ___ bp

A

610
342
268

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Noncoding, hypervariable I, & hypervariable II are routinely sequenced for _________?

A

Forensics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Normal conformation of DNA is _______ stranded.

A

double stranded (ds)

26
Q

Distrupted form of DNA is known as _________ (or ________) DNA, is ________ stranded.

A

denatured (melted)
single stranded (ss)

27
Q

Denaturation can be accomplished through ___________ or ___________.

A

heating
chemicals

28
Q

Assays requiring denaturation of human DNA are conducted at about ___ degrees celcius.

A

94

29
Q

Is the association of denatured DNA to native dsDNA.

A

Renaturation (annealing)

30
Q

Reassociation of complementary base sequences.

A

Hybridization

31
Q

Two requirements for annealing:

A

High salt concentration
High temperature

32
Q

Why is high salt concentration a must for annealing?

A

To overcome electrostatic repulsion between negatively charged phosphate group in two strands.

33
Q

Why is high temperature is required for annealing?

A

To disrupt the random, nonspecific intrastrand hydrogen bonds.

34
Q

Annealing of human DNA will occur around what temperature?

A

52 degree celcius

35
Q

Is a process in which genetic information is transferred from parent to daughter cells. It requires energy to unwind the helix and distrupts H-bonds.

A

DNA Replication

36
Q

This exist to minimize the replication errors.

A

Proofreading, repair systems

37
Q

Base changes occur resulting in _________; sometimes it doesn’t have an effect, producing polymorphisms.

A

mutations

38
Q

The synthesis of each nucleotide chain only occurs in the _______ direction.

A

5’ –> 3’

39
Q

One strand is synthesized continuously, whereas the other strand is synthesized discontinuously, resulting in _____________ that must be ligated together by the enzyme _________.

A

Okazaki fragments
ligase

40
Q

As replication proceeds, the parental double helix unwinds by the action of enzymes called __________ in procaryotes and ______________ in eucaryotes.

A

helicase
topoisomerase

41
Q

Polymerization of DNA is catalyzed by enzymes called ____________.

A

DNA polymerases

42
Q

Most RNA molecules are __________ stranded.

A

single

43
Q

Environmentally labile and easily degraded.

A

RNA

44
Q

Ribosomal RNA (rRNA) makes up ___% to ___% of total RNA in a cell.

A

80-90

45
Q

It is part of ribosomes and involved in translation of mRNA into proteins.

A

Ribosomal RNA (rRNA)

46
Q

Messenger RNA (mRNA) makes up ___% to ___% of total RNA in the cell.

A

2.5-5

47
Q

It is an intermediate between the genetic code in DNA and the total protein product. It is read by ribosomes to produce proteins.

A

Messenger RNA (mRNA)

48
Q

In eucaryotes, transcription of DNA forms a pre-mRNA molecule with both introns and exon. This molecule is referred to as _____________.

A

heteronuclear RNA (hnRNA)

49
Q

In heteronuclear RNA (hnRNA), the introns are ________, and the exons are ______________.

A

removed
joined together

50
Q

Further processing into mature mRNA inclues addition of ________________ cup and _____________ tail of up to ___ adenylate nucleotides at the _________ terminus.

A

5’ methylguanine
polyadenylate (poly A)
200
3’-OH

51
Q

Reads mRNA triplets and brings the appropriate amino acid to the ribosome for polypeptide synthesis.

A

Transfer RNA (tRNA)

52
Q

There are at least one ______ for each amino acid.

A

tRNA

53
Q

Involved in removal of introns.

A

Small nuclear RNA (snRNA)

54
Q

Other RNAs that involved in cellular processes.

A

Small and micro RNAs

55
Q

A variety of enzymes called _______ break phosphodiester bonds in nucleic acids.

A

nucleases

56
Q

Ubiquitous, very high concentrations on hands; thus it is necessary to wear gloves when working.

A

Ribonucleases (RNases)

57
Q

Cut only at the end of a nucleic acid, removing a single nucleotide at a time.

A

Exonucleases

58
Q

RNases act at a wide range of temperatures:

A

below -20 to >100 degree celcius

59
Q

Recognize a specific base sequence in a DNA molecule and cut near or within the sequence.

A

Restriction enzyme/endonucleases

60
Q

Endonucleases make two cuts, one in each strand, generating a ____ and ____ terminus.

A

3’-OH
5’-P