Basic Hematological Genetics Flashcards by Iseoluwa Ojo

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

zygote

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DNA contain only four different bases

List them!

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

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

double helix

A; T

G; C

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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)

5 primer ; up

3-primer; down

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

T/F

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DNA

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

coding or sense

template

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

Four

codon

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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.

introns

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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

mitosis

Light

sizes

position of their centromeres

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CHROMOSOME BANDING

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

Cytological

differential staining

longitudinal; mitotic

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TYPES of banding techniques

___-banding technique
___-banding technique

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TYPES of banding techniques

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

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

Denaturing; Giemsa

centromeric

Metacentric Sub-metacentric Accrocentric Telomeric

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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

Digestion; TRYPSIN

GIEMSA

length

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Centromere location:

Metacentric
Submetacentric
Acrocentric
Telocentric

Middle

Between middle and end

Close to end

At end

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Parts of an Acrocentric Chromosome

Satellite
P arm
Centromere
Q arm

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P is the ____ arm

Q is the ___ arm

Short

Long

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

______,_________, and _________

REGION,BAND AND SUB- BAND

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

T/F

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

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

T/F

Karyotyping

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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

alteration

DNA sequence

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CLASSIFICATION OF MUTATIONS: Cell type

_______ mutation
_______ mutation

somatic

Germ line

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CLASSIFICATION OF MUTATIONS: Cell type

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

any; germ

gametes

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CLASSIFICATION OF MUTATIONS: Cell type

______ mutation: They are not transmissible

_______ mutation: this is transmissible

somatic

Germ line

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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.

one base pair to another

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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

Loss of function Gain of function Lethal

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)

reduces or eliminate null

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

enhanced or new regulating

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

essential to the survival

A transition is said to occur when a _____ replaces _______ A transversion occurs when a _______ replaces a ________

pyrimdine another pyrimdine pyrimdine purine or vice versa

ABO blood group I gene encodes ________ which modifies substance ___. 3 alleles are known ___,___, and ___

glycosyltransferase H IA,IB and IO.

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.

four substitution glycosyltransferase H-substance

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 _____

deletion; frame shift; deletion stop codon 100 CML

CHROMOSOMAL ANOMALIES Can be: __________ (numerical) __________

Quantitative Qualitative

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

addition or loss aneuploidy Euploidy

Aneuploidy Monosomy –___of ___ chromosome from a ___________ Trisomy -_____ of ____ additional chromosome to _________ Tetrasomy: ___ of two additional chromosomes

loss; one; single haploid set Gain; one; a single haploid gain; two

Aneuploidy generally result from ________

Non-dysjunction

Euploidy polyploidy- ___,______,_____ As in: ______ = 3n _________= 4n ————— = 5n

3n, 4n,5n Triploidy Tetraploidy Pentaploidy

Qualitative chromosom anomalies: usually results when a chromosome ______________________

breaks in one or more places

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

lost; deletion Duplication Inversion Translocations Isochromosome

Qualitative chromosom anomalies: 1. a portion can be lost (deletion e.g 5q-) This loss we can be: _______ deletion __________ deletion

Terminal intercalary

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

one end within

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

has the centromere

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

breaks rotation

Translocations: could be _________ _________ __________

Reciprocal Non-Reciprocal Robertson

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 ________

Arrangement largest; smallest idiogram

further molecular technique _________ analysis of DNA __________ (FISH) _______ methods ___________ methods

Southern blot Florescent insitu hybridization PCR Nucleotide sequencing

APPLICATION OF FISH Detection of ______ and _______________ Identification of __________ (rearranged chromosome of uncertain origin)

numeric and structural chromosomal abnormalities marker chromosome

APPLICATION OF FISH Monitoring of the ________ and detection of ______ or _____ Identification of the ____ of marrow cell following marrow transplantation

effects of therapy; MRD or early relapse origin

APPLICATION OF FISH Identification of the _________ Examination of the _____ pattern of non –diving or _____ cells Detection of gene _______

neoplastic cell linage karyotypic; interphase amplification

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

High High

FISH is a slow technique T/F

F It is a rapid technique

FISH Large number of cells can be analysed in a short time T/F

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.

non- dividing or terminally differentiating tumors Low

With FISH, Automation of analysis is also possible T/F

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

antigens single gene locus or at gene loci cross over does not occur

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

phenotypically, biochemically or genetically not known to be allelic

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

_____ antigen collection have been defined generally.

Immunology of the blood group system. An antigen is a substance that can ___________ when introduced into an immuno competent host and can ____________

evoke an immune response react with the antibody.

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)

glycoproteins oligosaccharide amino acid sequence

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

T T

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

structure and stereochemical fit

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

immunogenicity

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

antigenicity

Most erythrocyte antigen are detected early in fetal development T/F

all erythrocyte antigens are fully developed at birth T/F

F Not all are fully developed at birth

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

P, ABO and Lewis PABLO

RED CELL ANTIBODIES Classification ______ antibodies _____ antibodies

Auto Allo

RED CELL ANTIBODIES Classification: In terms of mode of sensitization ________ ___________

Naturally occurring Immune antibodies

RED CELL ANTIBODIES Classification: In term of optimal temperature Cold – __-__oc Warm – ___oc

2-4 37

IgG is the ______ type red cell antibody,

immune

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

IgG anti RBC antibody are not capable of complement fixation T/F

F They are

Binding to complement by IgG antibody is determined by ______ and ______

Surface density Location of the recognised antigen

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

two IgG 20-30nm

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

most D sites are spaced too far apart so small that only one anti –D molecule per epitope can bind

Most IgG anti ABH antibody do not agglutinate saline suspended red cell T/F If T, what do they do If F, why?

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

Ig__ antibody crosses placenta.

IgM is a pentamer IgM cross the placenta. T/F

T F

IgA is the primary antibody in _____ IgA Exist predominately as _____ with a _____ component there in

secretion dimers secretory

IgA Does not cross placenta m IgA can fix complement T/F

T F

aggregated IgA can activate _____ pathway of complement

alternate

Naturally occurring allo-antibodies are mostly associated with carbohydrate antigen T/F

Haemolytic Disease of the newborn _____ and ____ which crosses placenta are mostly implicated

IgG1 and IgG3