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House Hemat > Basic Hematological Genetics > Flashcards

Basic Hematological Genetics Flashcards

1
Q

All information required for the development of a complete adult organism is contained in a single cell (________)

A

zygote

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2
Q

DNA contain only four different bases

List them!

A

Adenine (A); Guanine (G); Thymine (T) and Cytosine (C)

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3
Q

DNA exists as a ______ in which ___ is paired to ___ and ___ to __

A

double helix

A; T

G; C

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4
Q

A linear strand of DNA has one end where the OH - group attached to the 5-carbon is free (ie ______ end or ___ stream end) while the other end in which the OH-group attached to the 3-carbon is free (_____ end or _____ stream end)

A

5 primer ; up

3-primer; down

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5
Q

the 51 end and the 31 end of each DNA strands are ALWAYS complementarily paired.

T/F

A

T

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6
Q

DNA

By convention, the strand shown at the top is the ______ or _____ strand but the strand at the bottom actually serves as _______

A

coding or sense

template

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7
Q

_____ bases are required to specify for ___ commonly occurring amino acids in proteins. Therefore the genetic code has to be in triplets (____)

A

Four

20

codon

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8
Q

Here each amino acid is specified by one or more sequences of codon but these sequences that specifies amino acid are interrupted by intervening sequence (______) that do not code for amino acids sequence of the proteins.

A

introns

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9
Q

CHROMOSOMAL IDENTIFICATION

Chromosome are identified at ______ under _____ microscope.

They are distinguishable by the relative _____ and the ___________ but these features alone is not easy to use in distinguishing different chrom

A

mitosis

Light

sizes

position of their centromeres

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10
Q

CHROMOSOME BANDING

_________ procedures that allows ______ along the _____ axis of a ____ chromosome is called chromosome-banding technique.

A

Cytological

differential staining

longitudinal; mitotic

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11
Q

TYPES of banding techniques

___-banding technique
___-banding technique

A

C

G

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12
Q

TYPES of banding techniques

C-banding technique:
_______ the chromosome and heat treating with _____, stains the _____ region only.

So we can identify types of chromosome
________,______,______,______

A

Denaturing; Giemsa

centromeric

Metacentric Sub-metacentric Accrocentric Telomeric

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13
Q

TYPES of banding techniques

G-Banding: _____ of mitotic chromosome with ______, followed by _____ stain will give differential staining reaction along the ____ of the chromosome reflecting the heterogeneity and complexity of the chromosome

A

Digestion; TRYPSIN

GIEMSA

length

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14
Q

Centromere location:

Metacentric
Submetacentric
Acrocentric
Telocentric

A

Middle

Between middle and end

Close to end

At end

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15
Q

Parts of an Acrocentric Chromosome

A

Satellite
P arm
Centromere
Q arm

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16
Q

P is the ____ arm

Q is the ___ arm

A

Short

Long

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17
Q

In 1976 A uniform nomenclature for human chromosome banding pattern was established based on G-banding

______,_________, and _________

A

REGION,BAND AND SUB- BAND

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18
Q

Even with G banding, chromosomes that are homologs can’t be distinguished

T/F

A

F

So precise is the banding pattern of each chromosome that homologs can be distinguished

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19
Q

With G banding, chromosome that are identical in size and centromere placement can be easily identified (______).

T/F

A

T

Karyotyping

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20
Q

GENE MUTATIONS
Definition

Any ______ in ______. It may comprise single base pair substitution, or a deletion or insertion of one or more base pairs, or a major alteration in the structure of a chromosome

A

alteration

DNA sequence

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21
Q

CLASSIFICATION OF MUTATIONS: Cell type

_______ mutation
_______ mutation

A

somatic

Germ line

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22
Q

CLASSIFICATION OF MUTATIONS: Cell type

somatic mutation: Occurs in ____ cell of the body except ____ cells.
Germ line mutation: occur in _____ only

A

any; germ

gametes

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23
Q

CLASSIFICATION OF MUTATIONS: Cell type

______ mutation: They are not transmissible

_______ mutation: this is transmissible

A

somatic

Germ line

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24
Q

CLASSIFICATION BASED ON TYPE OF MOLECULAR CHANGE
We can describe mutation further in terms of nucleotide change.

Point mutations/sustitutions: A change in ______ to _____ in a DNA molecule.

A

one base pair to another

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25
Q

CLASSIFICATION BASED ON PHENOTYPE
Depending on type and location, mutation can have a wide range of phenotypic effect from non to severe
1.________ mutation
2.________ mutation
3.______ mutations

A

Loss of function

Gain of function

Lethal

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26
Q

CLASSIFICATION BASED ON PHENOTYPE
Depending on type and location, mutation can have a wide range of phenotypic effect from non to severe
1. Loss of function mutation:_____ or ______ the function of the gene product (____ mutations)

A

reduces or eliminate

null

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27
Q

CLASSIFICATION BASED ON PHENOTYPE
Depending on type and location, mutation can have a wide range of phenotypic effect from non to severe

2.Gain of function mutation: Mutation resulting in a gene product with ______ or ______ function and may result from mutation in _____ region of the gene resulting in expression at a higher level

A

enhanced or new

regulating

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28
Q

CLASSIFICATION BASED ON PHENOTYPE
Depending on type and location, mutation can have a wide range of phenotypic effect from non to severe

Lethal mutations: mutations interrupting a process that is _____________ of the organism

A

essential to the survival

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29
Q

A transition is said to occur when a _____ replaces _______

A transversion occurs when a _______ replaces a ________

A

pyrimdine

another pyrimdine

pyrimdine

purine or vice versa

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30
Q

ABO blood group
I gene encodes ________ which modifies substance ___.

3 alleles are known ___,___, and ___

A

glycosyltransferase

H

IA,IB and IO.

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31
Q

ABO blood group

DNA sequence IA and IB when compared show _____ consistent single nucleotide _____ , and these changes result in different ______ functions leading to different ——— modification.

A

four

substitution

glycosyltransferase

H-substance

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32
Q

ABO blood group

DNA of IO show _____ of a single nucleotide early in the coding sequence thus resulting in a ______ mutation at the point of the ______.

This then causes a ______ to arise after about _____ nucleotide sequence thus leading to chain termination of the enzyme product leading to non-functional product.

There is gain of function in _____

A

deletion; frame shift; deletion

stop codon

100

CML

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33
Q

CHROMOSOMAL ANOMALIES
Can be:

__________ (numerical)

__________

A

Quantitative

Qualitative

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34
Q

CHROMOSOMAL ANOMALIES

Quantitative Chromosomal abberations:
Can be __________ of one or more
chromosome (_______ ) or even addition of one or more complete set of chromosomal (_____)

A

addition or loss

aneuploidy

Euploidy

35
Q

Aneuploidy

Monosomy –___of ___ chromosome from a ___________

Trisomy -_____ of ____ additional chromosome to _________

Tetrasomy: ___ of two additional chromosomes

A

loss; one; single haploid set

Gain; one; a single haploid

gain; two

36
Q

Aneuploidy generally result from ________

A

Non-dysjunction

37
Q

Euploidy

polyploidy- ___,______,_____

As in:
______ = 3n
_________= 4n
————— = 5n

A

3n, 4n,5n

Triploidy

Tetraploidy

Pentaploidy

38
Q

Qualitative chromosom anomalies: usually results when a chromosome ______________________

A

breaks in one or more places

39
Q

Qualitative chromosom anomalies:

  1. a portion can be ___ (______e.g 5q-)
  2. Chromosomal ______
  3. ______
    4.__________
    5._________ (mirror image)
A

lost; deletion

Duplication

Inversion

Translocations

Isochromosome

40
Q

Qualitative chromosom anomalies:

  1. a portion can be lost (deletion e.g 5q-)

This loss we can be:
_______ deletion

__________ deletion

A

Terminal

intercalary

41
Q

Qualitative chromosom anomalies:

  1. a portion can be lost (deletion e.g 5q-)

This loss we can be:
Terminal deletion: occurring near _____of the chromosome

intercalary deletion: Occurring ____ the chromosome

A

one end

within

42
Q

Note: in chromosomal deletion , The segment that ________ are usually retained after cell division while the other part is lost e.g cri du chat loss of small terminal part of p arm of chrom 5

A

has the centromere

43
Q

Inversion (inv): Involves simultaneous ____ with _____ of the intervening segment

A

breaks

rotation

44
Q

Translocations: could be

_________
_________
__________

A

Reciprocal
Non-Reciprocal

Robertson

45
Q

KARYOTYPING:

________ of chromosomes from a particular cell according to a well established system such that the ______ chromosome are first and _______ are last to form an ________

A

Arrangement

largest; smallest

idiogram

46
Q

further molecular technique

_________ analysis of DNA

__________ (FISH)

_______ methods

___________ methods

A

Southern blot

Florescent insitu hybridization

PCR

Nucleotide sequencing

47
Q

APPLICATION OF FISH

Detection of ______ and _______________

Identification of __________ (rearranged chromosome of uncertain origin)

A

numeric and structural chromosomal abnormalities

marker chromosome

48
Q

APPLICATION OF FISH

Monitoring of the ________ and detection of ______ or _____

Identification of the ____ of marrow cell following marrow transplantation

A

effects of therapy; MRD or early relapse

origin

49
Q

APPLICATION OF FISH

Identification of the _________

Examination of the _____ pattern of non –diving or _____ cells

Detection of gene _______

A

neoplastic cell linage

karyotypic; interphase

amplification

50
Q

FISH

Efficiency of hybridization and detection is (low or high?)

Sensitivity and specificity is (low or high?)

A

High

High

51
Q

FISH is a slow technique

T/F

A

F

It is a rapid technique

52
Q

FISH

Large number of cells can be analysed in a short time

T/F

A

T

53
Q

FISH

cytogenetic data can be obtained from ________ or ________ cells or from _____ with (low or high?) mitotic index (e.g CLL), or poor samples that contain too few cells for routine cytogenetic study.

A

non- dividing or terminally differentiating

tumors

Low

54
Q

With FISH, Automation of analysis is also possible

T/F

A

T

55
Q

ERYTHROCYTE ANTGENES AND ANTIBODIES

A blood groups system is a group of _______ encoded by alleles at a ______ or _______ so closely linked that ___________

A

antigens

single gene locus or at gene loci

cross over does not occur

56
Q

ERYTHROCYTE ANTGENES AND ANTIBODIES

An antigen collection is a group of antigens that are _____,_______, or ______ related but their genes are _____________

A

phenotypically, biochemically or genetically

not known to be allelic

57
Q

International Society of Blood Transfusion has recently recognized ____ blood group systems.

A

34

58
Q

_____ antigen collection have been defined generally.

A

7

59
Q

Immunology of the blood group system.

An antigen is a substance that can ___________ when introduced into an immuno competent host and can ____________

A

evoke an immune response

react with the antibody.

60
Q

Most blood group antigens are _______ and their specificity is mostly determined either by the _________ (e.g. ABO) or __________ (e.g. MN, Kell, Duffy, Kidd, Diego)

A

glycoproteins

oligosaccharide

amino acid sequence

61
Q

An antigen can have several epitopes

An antigen can have several antigenic determinant with each epitope capable of eliciting an antibody response.

T/F

A

T

T

62
Q

Specificity of an antigen is determined by its _______ and ________ with its antibody

A

structure and stereochemical fit

63
Q

The ability of an antigen to stimulate an immune response is called _____

A

immunogenicity

64
Q

An antigen’s ability to react with the antibody is called its ________

A

antigenicity

65
Q

Most erythrocyte antigen are detected early in fetal development

T/F

A

T

66
Q

all erythrocyte antigens are fully developed at birth

T/F

A

F

Not all are fully developed at birth

67
Q

_____,______, and ______ blood group antigens are examples of Carbohydrate antigens

A

P, ABO and Lewis

PABLO

68
Q

RED CELL ANTIBODIES
Classification

______ antibodies

_____ antibodies

A

Auto

Allo

69
Q

RED CELL ANTIBODIES
Classification: In terms of mode of sensitization

________
___________

A

Naturally occurring
Immune antibodies

70
Q

RED CELL ANTIBODIES
Classification: In term of optimal temperature

Cold – __-__oc
Warm – ___oc

A

2-4

37

71
Q

IgG is the ______ type red cell antibody,

A

immune

72
Q

receptors or macrophage in the liver and spleen removes Ig__ coated red cell from circulation.

A

G

73
Q

IgG anti RBC antibody are not capable of complement fixation

T/F

A

F

They are

74
Q

Binding to complement by IgG antibody is determined by

______ and ______

A

Surface density

Location of the recognised antigen

75
Q

C1q requires that at least _______ molecule bind to a red cell within a span of ________ to initiate the complement cascade

A

two IgG

20-30nm

76
Q

IgG-anti-D rarely bind complement because ____________________; and the epitope is __________________

A

most D sites are spaced too far apart

so small that only one anti –D molecule per epitope can bind

77
Q

Most IgG anti ABH antibody do not agglutinate saline suspended red cell

T/F

If T, what do they do
If F, why?

A

T

rather they sensitize red cell at 37oc and can be detected with the help of AHG.

78
Q

Ig__ antibody crosses placenta.

A

G

79
Q

IgM is a pentamer

IgM cross the placenta.

T/F

A

T

F

80
Q

IgA is the primary antibody in _____

IgA Exist predominately as _____ with a _____ component there in

A

secretion

dimers

secretory

81
Q

IgA Does not cross placenta m

IgA can fix complement

T/F

A

T

F

82
Q

aggregated IgA can activate _____ pathway of complement

A

alternate

83
Q

Naturally occurring allo-antibodies are mostly associated with carbohydrate antigen

T/F

A

T

84
Q

Haemolytic Disease of the newborn

_____ and ____ which crosses placenta are mostly implicated

A

IgG1 and IgG3

House Hemat (29 decks)

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