Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

M2M exam 2 > human genome organization > Flashcards

human genome organization Flashcards

1
Q

gene rich regions

A

chrom 19

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

gene poor regions

A

chr 13, 18, 21

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

stable regions

A

most of the genome

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

unstable regions

A

many are disease associated like
SMA: chr 5q13
DiGeorge Syndrome: chr 22q
12 diseases associated with unstable region on chr 1(1q21.1)

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

GC rich regions

A

38%

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

AT regions

A

54%

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

clustering of GC rich and AT rich regions are the basis for

A

chromosomal banding patterns

G banding

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

G staining stands for

A

giemsa staining

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

_____% of genome is translated (protein coding)

A

1.5 %

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

____% of genome is represented by genes (exons, introns, flanking sequences involved in regulating gene expression)

A

20-25

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

____ % of genes are is single copy sequences

A

50

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

______% of genes is classes of repetitive DNA

A

40-50

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

euchromatin

A

relaxed

expressing

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

heterochromatin

A

condensed

not expressing

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

genome seuqencing is focused on _______ regions

A

euchromatic

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

_______ regions are essentially unsequenced

A

heterochromatic

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

gaps can still remain in _______ regions

A

euchromatic

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

Classes of repetitive DNAs:

A
  1. Tandem repeats

2. disersed repetitive elements

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

tandem repeats:

A

satellite DNA found in different parts of genome

hotspots for

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

dispersed repetitive elements

A
  1. alu family (SINES)
  2. L1 family (LINES)
  3. Alu’s and L1’s can be of significant medical relevance
  4. retrotransposition
  5. (NAHR)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

NAHR

A

non-allelic homologous recombination

dispersed repetitive element

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

SINE

A

short interspersed repetitive element
300bp
500,000 copies in genome
dispersed repetitive element

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

LINE

A

Long interspersed repetitive element
6 kb related members
100,000 copies in genome

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

Duplication rich genome architecture promotes _________

A

NAHR and disease

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

segmental dynamic mutation is

A

nonallelic homologous recombination (NAHR) between blocks of segmental duplication during mitosis leads to micro deletion and micro duplication of the unique region bracketed by duplications.
If the region contains dosage sensitive genes (ABC), disease results.
if not, duplicated cur is predisposed to additional rounds of micro deletion and duplication with increased probability

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Insertion deletions polymorphisms (indels):

A
  1. minisatelites

2. microsatellites (STRs)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

minisatellites

A

tenderly repeated 10-100 bp blocks of DNA

VNTR (variable number of tandem repeats)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

microsatellites (STRs)

A

di-, tri-, tetra-nucleotide repeats

5 x 10^4 per genome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

SNPS

A

frequency of 1 in 10^3 bp
PCR detectable markers
widely distributed

30
Q

Copy number variations (CNVs)

A

variation in segments of genome from 200 bp-2 Mb
can range from one additional copy to many
array comparative genomic hybridization (array CGH)

31
Q

Gene families are composed of

A

genes with big sequence similarity e.g. >85 that may carry out similar but distinct functions
some are clustered and some are dispersed

32
Q

gene families arise through

A

gene duplication

major mechanism to evolutionary change

33
Q

CNV’s are

A

primary type of structural variation
CNV loci may confer 12% of genome
implicated in increasingly large number of diseases

34
Q

examples of insertions and deletions (indels)

A

repeats: STRs, VNTRs

35
Q

estimated that _____% of genome is comprised of segmental duplications

A

5%

36
Q

interhominoid cDNA array based comparative genomic hybridization

A

arrayCGH

compare human to human or normal to cancer. Can also compare human to non human

37
Q

implications of highly dynamic genome

A
  1. no human genome is completely sequenced and assembled
  2. all regions of genome do not look/behave the same way
  3. rapidly changing, complex genomic regions
  4. missing heritability for many complex diseases
38
Q

GWAS

A

genome wide association studies

these implicate loci that account for only a small % of expected genetic contribution

39
Q

haploid human genome sequence is how long

A

3 x 10^9 bp

40
Q

The chromosomes are found in

A

23 pairs:

1) 22 autosomes (1-22)
2) 1 pair of sex chromosomes (XX or XY)

41
Q

Each chromosome is believed to consist of a _______

A

a single, continuous DNA double helix.

42
Q

Genotype + environment =

A

Genotype + environment = phenotype

43
Q

“α-satellite”

A

repeats (171 bp repeat unit)
found near centromeric region of all human chromosomes; may be important to chromosome segregation in mitosis and meiosis.

44
Q

how many new mutations per person?

A

30

45
Q

what drives adaptation?

A

random genetic variations

46
Q

random variation in highly ordered structure of DNA and RNA and protein almost always result in…..

A

deleterious consequences like genetic disease

47
Q

clustering

A

non random distribution of GC and AT region is the cause for chromosomal banding

48
Q

minisatellites

A

randomly repeated 10-100 bp blocks of DNA

49
Q

minisatellite examples

A

VNTR (variable number of tandem repeats)

50
Q

microsatellites

A

di, tri, tetra nucleotide repeats

5 x104 per genome

51
Q

microsatellite examples

A

STRPs (short tandem repeat polymorphisms)

52
Q

single nucleotide polymorphism examples

A

A to G

C to A

53
Q

SNP frequency

A

1 in 103 bp

54
Q

SNP is ___ detectable

A

PCR

55
Q

CNVs are

A

copy number variants
varaition in segments of genome tom 200bp -2Mb

one adds copy to many

56
Q

CNVs found by

A

array compparative genomic hybridization (CGH)

57
Q

variants can be

A

silent or have function effect

58
Q

current human genome

A

99% of euchromatic region of genome

241 gaps

59
Q

tandem repeats

A

spread throughout genome
found in 1, 9, 16 and Y
a-satellite repeats near centromere

60
Q

alu family

A

300 bp

500,000 copies in genome

61
Q

LINE family

A

6 kB

100,000 copies in genome

62
Q

dispered elements may cause disease by

A

insertion into genes and aberrant recombination

63
Q

how many genes?

A

25,000-30,000

64
Q

types of genes

A

protein coding
RNA coding
pseudogenes

65
Q

advantage of gene duplication

A

when gene duplication, one copy is free to carry out normal function, the other copy is free to change and lead to evolution

66
Q

missing heritability

A

large percentage of genetic factors of dz are yet to be found =missing heritability
this is thought to be in unsequenced, dynamic portions of genome

67
Q

how frequently SNP is likely to occur between two individuals

A

1 every 1000bp

99% identical and 3 million differences

68
Q

3 types of variation in genome

A
  1. indertion-deletion polymorphism (indel)
  2. SNP
  3. CNVs
69
Q

indels are

A
  1. minisatellites

2. microsatellites

70
Q

retrotransposition many cause

A

insertional inactivation of genes

71
Q

NAHR

A

repeats may facilitate aberrant recombination events before different copies of dispersed repeats leading to diseases

M2M exam 2 (23 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions