Intro Flashcards
What do you call the branch of genetics that studies the structure of DNA w/in the cell?
Cytogenetics
What branch of genetics deals with the number and morphology of chromosomes?
Cytogenetics
What are the 2 general areas of cytogenetics?
like sa ppt
- Classical
- Molecular
Among the two general areas of cytogenetics, which of them includes chromosome banding techniques, pedigree analysis, and karyotyping?
Classical Cytogenetics
Among the two general areas of cytogenetics, which of them includes fluorescent in situ hybridization (FISH), PCR, and Gene Therapies?
Molecular Cytogenetics
What are the three components (parts/phases) in the development of Cytogenetics?
- Cell discovery
- Chromosome structure and components discovery
- Emergence of Human Cytogenetics
A karyotype is a complete set of an individual’s chromosome and is arranged in:
A. smallest to largest
B. largest to smallest
C. random arrangement
D. all are small
B. largest to smallest
each pair (from 1st to 23rd) ay paliit nang paliit as you go on
How many pairs of chromosomes are there in humans?
A. 23
B. 46
C. 22
D. 48
A. 23
What are the two methods of hybridization that is under molecular cytogenetics?
- Fluorescence in situ hybridization
- Comparative genomic hybridization
What do you call the process of mixing the artificial and native DNA?
Hybridization
Who observed the section of cork and found structural units that he termed as cells?
Robert Hooke
Who published the microscopic anatomy of plants and advanced a theory that stamen = male & pistil = female?
Nehemiah Grew
if theory lng ng stamen & pistil = Nehemiah Grew; otherwise, Rudolf Jacob Camerarius
Who reported the studies on free cells such as protozoa and bacteria?
also improved the microscope by the technique of grinding the lens
Anthony van Leeuwenhoek
also termed microorganisms as animalcules
Who showed the presence of sex in plants?
- pollen = male
- pistil = female
Rudolf Jacob Camerarius
Who is known for plant hybridization and made hybrids between different varieties of tobacco?
Joseph Gottlieb Kolreuter
Who proposed a theory of evolution known as theory of inheritance of acquired characteristics?
Jean Baptiste Lamarck
Who described that heredity is the passing forward of the changes that are acquired during the life of an individual?
Jean Baptiste Lamarck
change (variation) is brought abt by conscious effort, environment, & necessity of the organ
Who is the scientist that studied plants and discovered the nucleus in Tradescantia?
Tradescantia = plant
Robert Brown
Who described cell division and showed that cells arise through partition walls formed between preexisting cells?
Hugo von Mohl
Who are the ppl that put forth the cell theory?
- Matthias Schleiden
- Theodor Schwann
all organisms are made up of cells and cells are the basic unit of life and all cells come from preexisting cells
Who first discovered chromosomes in pollen?
Karl Nageli
Who “summarized” the cell theory?
Rudolf Virchow
Who introduced aniline staining to observe chromosomes during cell division?
Walther Flemming
Aniline is a base that stains acidic structures
Who coined the term chromosome after staining techniques had been developed?
Waldeyer
Heinrich Wilhelm Gottfried von Waldeyer-Hartz
Chroma = colored; soma = body (Colored body)
Which portion in the DNA makes it acidic?
phosphate group
Aniline is derived from where?
Coal Tar
liquid from coal! however, it is a derivative of benzene which makes it carcinogenic
Who derived an estimate of 48 chromosomes using cross-sections of human testicle stained with iron hematoxylin?
Theophilus Painter
Who is the scientist that focused on sex chromosomes observed on a human sperm from a testicle?
Theophilus Painter
Who first showed that the giant chromosomes linked to the development of salivary glands in fruit flies could be used to identify the position of individual genes?
fruit flies = drosophila
Theophilus Painter
What do you call the interphase chromosomes found on the salivary glands of Drosophila?
polytene chromosomes
Who studied the somatic cells and showed that human cells have 23 pairs of chromosomes?
- Joe Hin Tjio
- Albert Levan
humans = 46; unggoy = 48
What drug is an anti-gout drug that is used to arrest cells in metaphase?
Colchicine
Which drug inactivates the spindle formation that results in condensed haphazardly arranged chromosomes, pro-metaphase like chromosomal arrangement?
Colchicine
destabilizing microtubules that leave condensed chromosomes there lng (c-metaphase)
Who used peripheral leukocyte culture method and was adopted by many cytogenetics?
Moorehead
leukocytes because cla ang nucleated (lymphocytes coz big daw); rbcs r not nucleated (to transport more oxygen)
In the leukocyte culture method, you must culture blood at body temperature for how many days?
3 days
3 days at 37 deg celsius
In the leukocyte culture method, after the 3-day culture, what reagents will you add to fix cells?
fix cells = stop metaphase & lyse
- Colchicine
- Hypotonic saline
Hypotonic saline = 0.45% NaCl or less
Who first developed in situ hybridization techniques in the 1960s?
- Joseph Gall
- Mary Lour Pardue
In ____, metaphase chromosomes are first treated briefly with trypsin, an enzyme that degrades proteins, before the chromosomes are stained with Giemsa.
what type of banding is seen? (maraming types but eto lng binanggit ian)
G-banding
Who discovered the chromosome theory of inheritance?
Sutton & Boveri
Walter Sutton
Whatever Mendel was talking abt in 1865, Sutton & Boveri gave it meaning
Who made the first genetic linkage maps from Drosophila?
(Thomas Hunt) Morgan, Sturtevant, Bridges, and Muller
linkage = non-mendelian inheritance (not determined by dominant and recessive alleles and can be governed by one gene)
What do you call the type of genes that, when recombined via meiosis, still stay together as one?
linked genes
non-mendelian inheritance
What do you call the movement of genetic information across normal mating barriers, between more or less distantly related organisms that Frederick Griffith used in order to determine the genetic material?
Horizontal Gene Transfer
not the usual parent to offspring (vertical)
Who determined that DNA and not protein is the heredity material?
Frederick Griffith
He used Diplococcus pneumoniae para ma-determine kung anong strain ang papatay sa mice.
Which rule states that DNA from any cell of all organisms should have a 1:1 ratio of pyrimidine and purine bases?
A=T; C=G
Chargaff’s rule
Who discovered the double helix in DNA?
Watson and Crick
James Watson & Francis Crick
Who used x-ray crystallography to investigate the structure of DNA?
Rosalind Franklin
and Maurice Wilkins
Franklin’s data was shared (w/o permission) by Wilkins with James Watson. later, w/ Crick, nabuo nila model ng DNA (MGA HANGAL TAKING CREDIT FOR HER WORK)
Who discovered the genetic code in protein synthesis?
Crick
Francis Crick
Which central concept in biology states that DNA has the capacity to replicate itself, to be transcribed to form RNA, and to be translated to form proteins?
Central Dogma
People with down syndrome have aberrations in chromosome pair number?
21
tatlo sa 21st; trisomy 21
What is the karyotype of Turner syndrome?
45, X
found in females
one X chromosome instead of two X chromosomes, with a total of 45 chromosomes instead of the usual 46.
What is the karyotype of Klinefelter syndrome?
47, XXY
found in males
there is an extra X chromosome
In what genetic condition can you normally find epicanthal folds?
epicanthal folds = eyes lower than earlobes
Trisomy 21
Down syndrome
What chromosome forms when chromosome 9 and chromosome 22 break and exchange parts?
This creates a short chromosome 22 and a new combination of instructions for the cells.
Philadelphia chromosome
nag-translocate
What chromosomal abnormality is associated in a patient with chronic myeloid leukemia?
or what do u call the chromosome
Philadelphia chromosome
Among the two types of hybdrizations, which is usually used for liquid specimens?
FISH
Fluorescence in situ hybridization
used in maternal blood, detection of chronic myeloid leukemia,
Among the two types of hybdrizations, which is usually used for solid specimens?
CGH
Comparative genomic hybridization
CGH in solid tumors (breast cancer cells via array CGH)
Just nice to know: The central finding in the human genome project is?
only a small portion of a DNA codes for a protein
the dominant ones in the human genome are helper genes (transcription factors, turn on & off, etc.)
Trisomy 13 is also known as what syndrome?
Patau syndrome
Trisomy 18 is also known as what syndrome?
Edwards syndrome
Just nice to know: what is the advantage of using interphase cytogenetics over metaphase?
ability to analyze chromosomes in all the tissue (cell) types kasi nga interphase is like resting phase b4 division
if metaphase over interphase, nasa metaphase plate lahat ng chromosomes so mas madaling makita abnormalities and ma-observe and such
what do you call the region of the chromosome where the microtubules of the spindle attach during cell division?
centromere
eto yung nasa gitna
What do you call the region of the chromosome that protects the ends of chromosomes?
Telomere
we have telomeres; bacteria wala (prokaryotes)
What do you call the procedure wherein you drain amniotic fluid from the womb?
amniotic fluid is then used to check for common aneuploidies
Amniocentesis
The shortening of which region in the chromosome is correlated with death?
Telomere
