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Cytogenetics Flashcards

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1
Q

Chromatin

A

During interphase
Euchromatin
Heterochromatin

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2
Q

Chromosome composition

A 
Long arm (q)
Short arm (p)
Centromere
Secondary constriction
Satellite (role in nucleolus formation)
Telomeres
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3
Q

Position of centromere

A

Metacentric
Submetacentric
Acrocentric
Telocentric

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4
Q

Cytogenetics

A

Study of chromosome structure, number &its mutations

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5
Q

Mutation cause during meiosis

A

Incorrect chromosome separation (# change)

Chromosome breaking & wrong joining (structure change)

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6
Q

Mutations results

A 
Spontaneous abortion
Anomaly of growth
Disorder of organ development
Disorder of reproduction, that can lead to sterility
Disorder of immunity development
Mental retardation
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7
Q

Material for examination of chromosomes

A

Cells grown in vitroto increase number (fytohemaglutinin)
Mitosis stopped after 2-3 days in metaphase by mitotic inhibitor colchicine
Cells are lysed in hypotonic solution to release chromosomes
Chromosomes are stained, photographed & grouped

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8
Q

Fytohemaglutinin

A

Stimulates mitosis

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9
Q

Colchicine

A

Prevents mitotic spindle forming

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10
Q

Karyology

A

Study of whole sets of chromosomes - chromosomal aberrations & sex

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11
Q

Karyotype

A

Observed chromosome characteristics of individual or species

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12
Q

Karyogram, Idiogram

A

Format of chromosomes arranged in pairs, ordered by size & position of centromere

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13
Q

Methods of identification of chromosomes

A

Chromosome banding
FISH
multiplex FISH

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14
Q

Chromosome banding

A

G-banding

R-banding

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15
Q

G banding

A

Treatment of chromosome in metaphase stage with trypsin & stain them with Giemsa

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16
Q

Trypsin

A

Partially digest protein

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17
Q

Giemsa

A

Dark bands are A,T rich, gene poor

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18
Q

R-banding

A

Reverse to G-bands

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19
Q

FISH

A

Use of highly specific DNA proves which are hybridised to interphase or metaphase chromosomes

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20
Q

DNA probe + FISH method

A

Labeled with fluorescent or non fluroescent molecules which are then detected by fluorescent antiboides
Probes bind to a specific region on target chromosome
Chromosomes are stained using contrasting color & cells are viewed using fluorescence microscope

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21
Q

multiplex FISH

A

More differently colored DNA probes

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22
Q

Mutation

A

Change in genotype, that can be inherited

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23
Q

Spontaneous mutation

A

By mistake in DNA replication & reparation mechanism

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24
Q

Induced mutation

A

Induced by mutagens

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25
Types of mutations
1) Genome mutation (numerical a.) 2) Chromosomal mutation (structural a.) 3) Gene mutation
26
Genome mutation
Change in chromosome number Aneuploidy Euploidy
27
Aneploidy
Change of number of individual chromosome Can lead to syndroms Caused by nondisjunction of chromosomes in meiosis
28
Euploidy
Change of chromosome sets
29
Chromosomal mutation
Change in structure of chromosome
30
Gene mutation
Change in genes, nucleotides or their order
31
Down syndrome
Trisomy-21
32
Edwards syndrome
Trisomy-18
33
Patau syndrome
Trisomy-13
34
Turner syndrome
Monosomy of chromosome X | FEMALES
35
Klinefelter syndrome
Extra chromosome X | MALES
36
Metamale (Jacob syndrome)
Extra chromosome Y | MALES
37
Metafemale
Extra chromosome X | FEMALES
38
Deletion
Part of chromosome is deleted
39
Interstitial deletion
Inside of chromosome
40
Terminal deletion
At the end of chromosome
41
Cry of the cat
Deletion of small portion of chromosome 5
42
Duplication
Part of chromosome if duplication
43
Fragile X
Duplication X chromosome is fragile at one end 700 repeats instead of normal 29
44
Insertion
Part of one chromosome is inserted in other chromosome
45
Translocation
Part of 1 chromosome is translocated to other chromosome
46
Reciprocal translocation
Parts of 2 chromosomes are mutually translocated
47
Inversion
Changeover of segment in chromosome
48
Examples of sex differentitation
1) Influenced by temperature in environment | 2) Different sex chromosomes inf emale and male
49
Human chromosome X
More than 153mill. bp Gene-poor region 2000 genes Mutations = X-linked genetic disorders
50
Human chromosome Y
58mill. bp 86 genes Gene SRY - testis development Holandric inheritance
51
Origin of Y chromosome
X & Y chromosomes diverged 300 mill. years ago from a pair of autosomes in ancestral mammals Genes beneficial for males & harmful to females developed on Y chromosome/were acquired by translocation Y chromosome can not recombine with X chromosome, except pseudoautosomal regions at the telomeres
52
Barr Body
X inactivation of X chromosome
53
Process of X inactivation
Lyonization
54
Genetics
Science of heredity & variation in living organisms
55
Parts of genetics
Molecular Classical Population
56
Molecular genetics
Structure & replication of DNA & gene expression on molecular level
57
Classical Genetics
Transfer of trait from 1 generation to the other one - Mendelian inheritance - Non-mendelian inheritance - Heritability of quantitative trait
58
Population genetics
Variation in genes (traits) in 1 population or between more populations
59
Mendelian inheritance
Principles relating to transmission of hereditary characteristics from parents to their progeny (offspring)
60
Mendelian inheritance - OBJECT OF STUDY
Heritability of qualitative trait of individuum
61
Mendelian inheritance includes
Mendelian principles Gene interactions Genetic linkage Sex-linked traits
62
Gene expression
Expression of gene (part of DNA) through transcription & translation
63
Proteins
Have certain functions ( thus participate on certain trait
64
Proteins examples
1) Gene for flower color = expresses into protein, that has function of enzyme, that catalyzes synthesis of certain flower colour 2) Gene for blood type = expresses into proteinpresent on surface of erythrocytes & thus influences blood type
65
Trait
Feature of an organism
66
Phenotype
Synonym of trait = indicate the state of trait | Complex of traits in organisms produced by genotype
67
Qualitative trait
Monogenetic inheritance - trait is influenced by single major gene Phenotype falls into different categories
68
Quantitative traits
Interactions between 2 or mores minor genes & their environment Phenotypes varies in degrees
69
Gene
Unit of inheritance | Encodes 1 protein or tRNA & rRNA
70
Allele
Concrete form of a gene
71
Locus
Fixed position of gene on chromosome
72
Genotype
Genetic constitution of organism with respect to trait
73
Homozygous
2 alleles of certain gene carried by individual are the same
74
Heterozygous
2 alleles of certain gene carried by individual are different
75
Autosomal
Locus on not sex-linked chromosome (autosome)
76
Gonosomal
Locus on sex-linked chromosome (gonosome)
77
P generation
Generation of parents, that are different homozygous (dominant & recessive)
78
F1 generation
1st generation of uniform offspring, result of crossing of P generation
79
F2 generation
2nd generation of offspring, result crossing of 2 individuals of F1 generation
80
B1 generation (back crossing)
1st generation of back crossing (individuals of P & F1 generations)
81
Hybrid
Heterozygous; usually offspring of 2 different homozygous individuals in the certain trait
82
Monohybrid cross
Cross involving parents differing in 1 studied trait
83
Dihybrid cross
Cross involving parents differing in 2 traits
84
Polyhybrid cross
Cross involving parents differing in MORE traits
85
MENDELIAN LAWS
Principle of... 1) Uniformity of F1 hybrids 2) Identity of reciprocal crosses 3) Segregation 4) Independent Assortment
86
Principle of uniformity of F1 hybrids
Because parents are different homozygotes
87
Principle of identity of reciprocal crosses
Because gene is located on autosome (there is not difference in sex)
88
Principle of segregation
For any trait (gene), 2 alleles of 1 gene do not mix hybrid & subsequently segregate during gametogenesis Only 1 allele from each parent passes on to gamete & subsequently to an offspring Which allele of a parent's pair of alleles is inherited is a matter of chance
89
Principle of independent assortment
Pairs of alleles of diff. genes are passed to offspring independently of each other -> new combinations of genes present in neither parent, are possible Because genes for independently assorted traits are located on different chromosomes
90
Mendelian principles hold true in the following conditions
1) Monogenic inheritance 2) Autosomal inheritance 3) Genes are located on diff. chromosome pairs
91
Monogenic inheritance
1 gene encoded 1 trait
92
Autosomal inheritance
Genes encoding traits are located on autosomes
93
Dominant allele
Allele (trait) that is expressed preferentially over the 2nd allele (trait) - functional form
94
Recessive allele
Allele (trait) that is expressed only if the 2nd allele is the same - non functional form
95
Relation between alleles
Complete dominance Incomplete dominance Co-dominant alleles
96
Complete dominance
Heterozygotes has the same phenotype as dminant homozygous
97
Incomplete dominance
Heterozygotes has different phenotype than homozygotes
98
Co-dominant alleles
2 different alleles of 1 gene are responsible for different phenotypes (blood groups)
99
Punnet Square
Determine probability of offspring having particular genotype

Biology Exam (14 decks)

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