CYTOGENETICS Flashcards
branch of genetics that studies the structure of DNA within the nucleus
cytogenetics
observing numerical, structural, and functional abnormalities of genetic materials present in diseases
cytogenetics
who discovered chromosomes in pollen
Karl Nageli
When did Karl Nageli discover chromosomes in protein
1842
introduced aniline staining to observe chromosomes during cell division
Walther Flemming
When did Walther Flemming introduce aniline staining?
1870
coined the term ‘chromosome’
Heidrich Wilhelm Gottfried von Waldeyer-Hartz
When did Waldeyer coin the term ‘chromosome’
1888
derived an estimate of 46 chromosomes using images of nuclei reconstructed from thin sections of human testicular tissue; stain: iron hematoxylin
Theophilus Painter
When did Theophilus Painter conduct his work?
1923
When were cytogenetic technique improvements using colchicine arrest cells in metaphase conducted?
1950
for gout treatments derived from Colchicum autumnale
colchicine
Who showed that human cells have 23 pairs of chromosomes?
Joe Hin Tijo and Albert Levan
When did Tijo and Levan show that human cells have 23 pairs of chromosomes?
1956
When did the peripheral leukocyte culture method by Moorehead et al. adopted by many cytogenetics happen?
1960
When did Chargaff discover the amount of nitrogen base in chromosomes?
1950
When did Watson and Crick discover the double helix
1953
Who discovered the double helix?
Watson and Crick
Aneuploidy - 45, X
Turner syndrome
Aneuploidy - 47, XXY
Klienefelter syndrome
Philadelphia chromosomes
Chronic Myeloid Leukemia
traditional or conventional means which are basic
Classical cytogenetic
complex cytogenetic which uses probes, markers, stains, fluorescence
Molecular cytogenetics
example of classical techniques
banding techniques (karyotypes)
example of molecular technique
hybridization technique
abnormal number of chromosomes
aneuploidy
2 applications of Cytogenetics in diagnostic techniques and Methods
- pre- natal studies
- human cancer studies
95% of chromosomal aberrations causing lives = born birth defects:
aneuploidies in CHR, 13, 18, 21, X, and Y
prenatal diagnosis of aneuploidies
What did Mendel discover in 1865
paired factors
maternal blood cytogenetic analysis of fetal cells by fish
non invasive detection of chromosomal disorders
different physical feature (ex. different colors in 1 flower)
chimerism
occurs when a person has two or more genetically different sets of cells in his or her body
mosaicism
Who originally discovered the double helix
Rosalind Franklin
What did chargaff discover?
Nitrogenous base
What did Moorehead et al discover in in 1960?
Peripheral leukocytes
What did Brenner discover in 1961?
Genetic code in protein synthesis
Who discovered the genetic code in protein synthesis in 1961?
Crick, Sydney Brenner et al.
What disorder is associated with the Philadelphia Chromosome?
Chronic myeloid leukemia
What segregates during gamete formation
Paired factors
Discovered the chromosome theory of inheritance
Sutton and Boveri
What did sutton and boveri discover and when did it happen
Chromosome Theory of Inheritance (1902)
95% of chromosomal aberrations causing lives = born birth defects:
Aneuploidy in CHR, 13, 18, 21, X, and Y
Transcribe FISH
Fluorescence in situ hybridization
Transcribe CGH
Comparative genomic hybridization
What does TSG do?
Makes sure that excessive and premature proliferation of cells are avoided
What does ONC do?
Promotes proliferation of cells
BCR/ABL gene fusion
Philadelphia chromosome
HER-2/NEU
for breast cancer
ONC
oncogenes
TSG
Tumor suppressor genes
Who enabled detection of numerical chromosome abberations like trisomy 21
Kannan and Alwi 2009
BCR/ABL gene fusion
Chronic Myeloid Leukemia
MLL gene in an 11023
Acute Leukemia
TEL/AML fusion in
Childhood acute lymphoblastic Leukemia
