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CYTOGEN FINALS > PRELIM LEC 1: INTRO TO CYTOGEN > Flashcards

PRELIM LEC 1: INTRO TO CYTOGEN Flashcards

1
Q

According to ______ cytogenetics is the combination of the disciplines cytology and genetics

A

SUTTON

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2
Q

it is the study of chromosomes, their behavior, and abnormalities

A

CYTOGENETICS

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3
Q

Thread like structures of cells containing DNA and proteins and therefore, they;

  • carry inherited traits
  • carry the organizational of the cell life Heredity
A

CHROMOSOMES

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4
Q

Human somatic cell has _____ of chromosomes

A

23 PAIRS

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5
Q

the 22 pairs of chromosomes are the?

A

AUTOSOMES

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6
Q

it is the study of inherited traits and their variations

  • considers the transmission of information at several levels
A

GENETICS

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7
Q

it is the cause of similarities between individuals

VARIATION OR HEREDITY?

A

HEREDITY

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8
Q

it is the cause of differences between individuals

VARIATION OR HEREDITY?

A

VARIATION

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9
Q

what is the unit of heredity?

A

GENES

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10
Q

parts of the GENES

A

segment of DNA
exons
introns

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11
Q

a trait caused predominantly by a SINGLE GENE

A

MENDELIAN

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12
Q

traits that are determined by one or more genes & environmental factors

A

MULTIFACTORIAL TRAITS

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13
Q

example of Multifactorial traits

A

hair color (controlled by 3 genes + environmental influences)

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14
Q

_____ is the COMPLETE SET of GENETIC INSTRUCTIONS characteristics of an organism

A

GENOME

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15
Q

____ is the study of analyzing & comparing genomes

A

GENOMICS

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16
Q

____ is composed of _____ protein - encoding genes

A

EXOME, 20,325

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17
Q

it is the summary of process of storing and expressing genetic information

A

CENTRAL DOGMA

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18
Q

process of transferring information from DNA to RNA is called

A

TRANSCRIPTION

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19
Q

process of converting genetic information contained in RNA into a proteins is called ______

A

TRANSLATION

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20
Q

level of genetics

A
  1. DNA
  2. GENE
  3. CHROMOSOME (23 pairs)
  4. HUMAN GENOME
  5. CELL
  6. TISSUE (cuboidal epithelium)
  7. ORGAN (kidney)
  8. ORGAN SYSTEM (urinary system)
  9. ORGANISM
  10. FAMILY
  11. COMMUNITY
  12. POPULATION
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21
Q

it is genetic material (biochemical) that forms gene

A

DNA

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22
Q

sequence of DNA that instruct a cell to produce a particular protein

A

GENE

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23
Q

genetic make up of an individual

A

GENOTYPE

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24
Q

Visible trait biochemical change or effect on health determine by his her genotype

A

PHENOTYPE

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25
Q

Further distinguish by how many copies are necessary to affect the phenotype

A

ALLELES

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26
Q

it has an effect while present in just one copy or one chromosome

DOMINANT OR RECESSIVE ALLELE

A

DOMINANT ALLELE

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27
Q

It must be present on both chromosome in a pair to be expressed

DOMINANT OR RECESSIVE ALLELE

A

RECESSIVE ALLELE

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28
Q

Continuous molecule of DNA and the proteins associated with it is called the…

A

CHROMOSOMES

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29
Q

It is chart that display chromosomes pairs from largest to smallest

A

KARYOTYPE

30
Q

It is the COMPLETE SET OF GENETIC INSTRUCTIONS of characteristics of an organism

A

HUMAN GENOME (23 pairs of chromosomes)

31
Q

CHANGE IN GENE, can have an effect at the whole - person level (causing a disease)

A

MUTATION

32
Q

MUTATION in the CFTR gene causes…

A

CYSTIC FIBROSIS

33
Q

What is CFTR gene?

A

CYSTIC FIBROSIS CONDUCTANCE REGULATOR (CFTR) PROTEIN

34
Q

PREHISTORIC TIME AND THE GREEK INFLUENCE

Domestication and selective breeding of plants and animals happen…

A. BETWEEN 8000 AND 1000 BC
B. BETWEEN 7000 AND 8000 BC
C. BETWEEN 9000 AND 1000 BC

A

A. BETWEEN 8000 AND 1000 BC

35
Q

He argued that active “humors” resided in various part of the (male) body served as the bearers of hereditary traits

A

HIPPOCRATES (On the Seed - Hippocratic treatise)

36
Q
  • He articulated the theory of spontaneous generation with the notion that life can arrive from non living matter
  • he proposed that the generative power of male semen resided in a pneuma (vital heat) that it contained
A

ARISTOTLE

37
Q

He coined the Epigenesis to counter the notion that any tiny adult structures in egg or sperm simply grow through bigger during embryonic development

Epigenesis: organism is derived from substances present in the egg that differentiate into adult structures during embryonic development

A

WILLIAM HARVEY (1600s)

38
Q

Theory of preformation which was proposed during ______, state sex cells contain a complete miniature adult called homunculus

A 18TH CENTURY
B 19TH CENTURY
C 17TH CENTURY

A

C 17TH CENTURY

39
Q

Cell theory: all organisms are composed of cells.
All life forms comes from pre-existing cells.
Is proposed by _______ during 1830.

A

THEODOR SCHWANN & MATTHIAS SCHLEIDEN

40
Q

He was the 1st to describe and discover chromosomes (plant cells - transitory cytoblasts

A KARL WILHELM von NÄGELI (1842)
B EDUARD STRASBURGER (1875)
C GREGOR JOHANN MENDEL (1856-1863)

A

A KARL WILHELM von NÄGELI (1842)

41
Q
  • He is the father of genetics
  • Inheritance and theory involving hereditary factors in the germ cells

A KARL WILHELM von NÄGELI (1842)
B EDUARD STRASBURGER (1875)
C GREGOR JOHANN MENDEL (1856-1863)

A

C GREGOR JOHANN MENDEL (1856-1863)

42
Q

First to demonstrate cell division and the presence of distinct bodies within the nucleus

A KARL WILHELM von NÄGELI (1842)
B EDUARD STRASBURGER (1875)
C GREGOR JOHANN MENDEL (1856-1863)

A

B EDUARD STRASBURGER (1875)

43
Q
  • Discoverer of chromosome mitosis
  • Father of cytogenetics

A WALTHER FLEMMING 1882
B AUGUST WESSMANN 1888
C HEINRICH WILHELM GOTTFRIED VON WALDEYER-HARTZ 1888

A

A WALTHER FLEMMING 1882

44
Q
  • He was the 1st to used a basic dye (methylene blue) to stain chromosomes
  • He coined the term “chromosome”
    Chromo (color) and soma (body)

A WALTHER FLEMMING 1882
B AUGUST WESSMANN 1888
C HEINRICH WILHELM GOTTFRIED VON WALDEYER-HARTZ 1888

A

C HEINRICH WILHELM GOTTFRIED VON WALDEYER-HARTZ 1888

45
Q
  • He found chromosomes in the sperm and egg cells of the silk moth fused during fertilization

A WALTHER FLEMMING 1882
B AUGUST WESSMANN 1888
C HEINRICH WILHELM GOTTFRIED VON WALDEYER-HARTZ 1888

A

B AUGUST WESSMANN 1888

46
Q

They proposed the chromosome theory of inheritance on 1902

A

THEODOR BOVERI AND WALTER SUTTON

47
Q

She identified the sex chromosomes

A NETTIE STEVENS 1905
B HANS VON WINIWARTER 1912
C THEOPHILUS SHICKEL PAINTER 1921

A

NETTIE STEVENS 1905

48
Q

He estimated that men have 47 chromosomes and 48 in women

A NETTIE STEVENS 1905
B HANS VON WINIWARTER 1912
C THEOPHILUS SHICKEL PAINTER 1921

A

B HANS VON WINIWARTER 1912

49
Q
  • He discovered the Y chromosome in testicular cells from 3 males
  • He state also that there are 48 chromosomes in males

A NETTIE STEVENS 1905
B HANS VON WINIWARTER 1912
C THEOPHILUS SHICKEL PAINTER 1921

A

C THEOPHILUS SHICKEL PAINTER 1921

50
Q

They correct the determination of the human diploid chromosome number as 46

A

ALBERT LEVAN & JOE HIN TIJO 1955 - 1956

51
Q

They constructed the DNA double helical model

A

FRANCIS CRICK & JAMES WATSON 1953

52
Q

He discovered patients with Down syndrome had an extra copy of chromosome 21

A

JEROME LEJEUNE 1959

53
Q

He was the 1st to described the Crib - du - chat syndrome (deletion in 5p -a piece in chromosome #5 is missing)

A

JEROME LEJEUNE 1963

54
Q

Advancement in Banding Techniques started in…

A

1960

55
Q

______ developed Q banding in 1960

A

TORBJORN CASPERSON

56
Q

G - banding and R - banding was developed in

A

1970

57
Q

It is used to detect small deletion and duplication and was introduced by ______ in 1980s

A

FLUORESCENT IN SITU HYBRIDIZATION (FISH); THOMAS RIED & YOSHINORI WATANABE

58
Q

Is for isolating DNA from any cytogenetically recognizable of a chromosome (1980s)

A

CHROMOSOME MICRODISSECTION

59
Q

3 Molecular Cytogenetics
- Used for identifying GAINS and LOSSES of a specific chromosomal region within the whole genome

A COMPARATIVE GENOMIC HYBRIDIZATION (CGH) ASSAYS
B SINGLE - NUCLEOTIDE POLYMORPHISM ARRAY BASED KARYOTYPING
C NEXT - GENERATION SEQUENCING (NGS)

A

A COMPARATIVE GENOMIC HYBRIDIZATION (CGH) ASSAYS

60
Q

3 Molecular Cytogenetics
- Used for genome - wide detection of GENETIC LESIONS

A COMPARATIVE GENOMIC HYBRIDIZATION (CGH) ASSAYS
B SINGLE - NUCLEOTIDE POLYMORPHISM ARRAY BASED KARYOTYPING
C NEXT - GENERATION SEQUENCING (NGS)

A

B SINGLE - NUCLEOTIDE POLYMORPHISM ARRAY BASED KARYOTYPING

61
Q

3 Molecular Cytogenetics
- Used for genome - wide analysis of CHROMOSOMAL ABNORMALITIES

A COMPARATIVE GENOMIC HYBRIDIZATION (CGH) ASSAYS
B SINGLE - NUCLEOTIDE POLYMORPHISM ARRAY BASED KARYOTYPING
C NEXT - GENERATION SEQUENCING (NGS)

A

C NEXT - GENERATION SEQUENCING (NGS)

62
Q

Application and Importance of Cytogenetics

  • Identification and characterization
    -Numerical changes ( aneuploidy) & structural abnormalities
  • Helps diagnose genetic disorders: Down syndrome, Turner syndrome, etc.

A CHROMOSOMAL ABNORMALITIES
B CANCER CYTOGENETICS
C PRENATAL DIAGNOSIS
D ASSISTED REPRODUCTIVE TECHNOLOGIES (ARTs)

A

A CHROMOSOMAL ABNORMALITIES

63
Q

Application and Importance of Cytogenetics

  • CHROMOSOMAL alterations & rearrangements that occur in various types of cancer
    Ex: Philadelphia chromosome in chronic myeloid leukemia (CML)

A CHROMOSOMAL ABNORMALITIES
B CANCER CYTOGENETICS
C PRENATAL DIAGNOSIS
D ASSISTED REPRODUCTIVE TECHNOLOGIES (ARTs)

A

B CANCER CYTOGENETICS

64
Q

Application and Importance of Cytogenetics

  • Preimplantation genetic testing for aneuploidy, analyzes chromosomal content of embryos

A CHROMOSOMAL ABNORMALITIES
B CANCER CYTOGENETICS
C PRENATAL DIAGNOSIS
D ASSISTED REPRODUCTIVE TECHNOLOGIES (ARTs)

A

D ASSISTED REPRODUCTIVE TECHNOLOGIES (ARTs)

65
Q

Application and Importance of Cytogenetics

  • Karyotyping & FISH, helps in detecting abnormalities in developing fetuses.

A CHROMOSOMAL ABNORMALITIES
B CANCER CYTOGENETICS
C PRENATAL DIAGNOSIS
D ASSISTED REPRODUCTIVE TECHNOLOGIES (ARTs)

A

C PRENATAL DIAGNOSIS

66
Q

Application and Importance of Cytogenetics

  • Molecular mechanisms underlying chromosomal abnormalities, gene expression, & genomic stability
  • Cure of some diseases
  • Pharmacogenetics

A CYTOGENETIC RESEARCH
B EVOLUTIONARY STUDIES
C DNA PROFILING
D CONNECTS PAST TO PRESENT
E GENETIC MODIFICATIONS

A

A CYTOGENETIC RESEARCH

67
Q

Application and Importance of Cytogenetics

  • Comparison of chromosomal organization & rearrangements among different species to gain insights into their evolutionary relationships & trace the evolution of genomes over time

A CYTOGENETIC RESEARCH
B EVOLUTIONARY STUDIES
C DNA PROFILING
D CONNECTS PAST TO PRESENT
E GENETIC MODIFICATIONS

A

B EVOLUTIONARY STUDIES

68
Q

Application and Importance of Cytogenetics

  • Comparing DNA sequences (DNA fingerprinting)
    Purpose: to establish/rule out identity, relationships or ancestry
    Forensic science: collecting of physical evidence of crime

A CYTOGENETIC RESEARCH
B EVOLUTIONARY STUDIES
C DNA PROFILING
D CONNECTS PAST TO PRESENT
E GENETIC MODIFICATIONS

A

C DNA PROFILING

69
Q

Application and Importance of Cytogenetics

  • Determining family relationships
    Establish geographic origins of specific populations
    DNA testing can provide views into past epidemics of infectious diseases by detecting genes of the pathogens

A CYTOGENETIC RESEARCH
B EVOLUTIONARY STUDIES
C DNA PROFILING
D CONNECTS PAST TO PRESENT
E GENETIC MODIFICATIONS

A

D CONNECTS PAST TO PRESENT

70
Q

Application and Importance of Cytogenetics

Plants with enhanced potential
- More vigorous growth & increased yields
- Resistance to natural predators & pests
- Production of hybrids & others

Animals: selective breeding
- Purpose: to develop superior breeds of livestock: a. Produced chickens that grow faster, yield high quality meat, lay greater numbers of larger eggs; b. larger animals (pigs, cows): artificial insemination
- To study endangered and difficult - to - capture animals

A CYTOGENETIC RESEARCH
B EVOLUTIONARY STUDIES
C DNA PROFILING
D CONNECTS PAST TO PRESENT
E GENETIC MODIFICATIONS

A

E GENETIC MODIFICATIONS

CYTOGEN FINALS (11 decks)

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