Introduction Flashcards by Manel Libanan

Major parts of cells

Cell membrane
Cytoplasm
Nucleus

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Membrane bound structures

Involved in the different metabolic activities of the cell

Cytoplasmic organelles

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Small, electrons opaque particles of RNA and numerous proteins.

Ribosomes

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Inclusion bodies

Secretory granules
Fat droplets
Water droplets
Pigments

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Structures that form the framework of the cell

Cytoskeleton

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Fine filaments coursing throughout the cytoplasm

Commonly occur as a thin sheet of filaments near the plasmalema

Microfilaments

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Smooth muscle filaments

Tonofilaments

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Striated muscle filaments

Myofilaments

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Nerve cell

Neurofilaments

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Usually found at the center of the cell

Nucleus

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Composition of nucleus

Nuclear membrane
Chromatin materials
Nucleolus/li
Nucleopplasm

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Cellular reproduction thru mitosis

Somatic cells

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Cellular reproduction of somatic cells

Meiosis

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Two daughter cells are produced, each with a chromosomal karyotype identical to that of the mother cell

Mitosis

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Chromosome condense to form a compact structure and become visible
Chromosomes attached to the nuclear membrane via their telomeres

Prophase 1-1. Leptotene

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Pairing of homologous chromosomes- chromosomal synapsis

Formation of a complex structure - synaptonemal complex - bivalent or tetrad

Prophase 1-2 Zygotene

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Crossing over of nonsister chromatids of homologous chromosomes occurs at the recombination nodules
Chromosomes remain linked at the sites o crossing over

Prophase 1 - 3 pachytene

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Dissolution of the synaptonemal complex and separation of the homologous chromosomes of the bivalents or tetrad except at the sites of crossing over

Prophase 1-4 diplotene

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The X shaped structures formed during the separation are known as ———

Chiasmata

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Marked by the termination of chiasmata and assembly of meiotic spindle to separate the homologous chromosomes

Prophase 1-5 diakinesis

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The bivalents/ tetrads align at the equatorial plate and microtubules from the opposite poles attach to the pairs homologous chromosomes.

Metaphase 1

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Homologous chromosomes separate while keeping the sister chromatids associated at their centromeres

Anaphase 1

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Nuclear membrane reappears and is followed by cytokinesis to give rise to a dyad of cells

Telophase 1

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Creates the haploid gametes that fuse together during the process of sexual reproduction

Meiosis

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Study of cells

Cytology

Study of genetic materials

Genetics

The science that converges cytology and genetics

Cytogenetics

Concerned with the study of the structure and function of the cell, especially the chromosomes

Cytogenetics

A clinical laboratory scientist who carries out diagnostic testing, including culturing, harvesting, staining, photomicroscopy and chromosome analysis.

Cytogenetic technologist

Gave the first account of mitosis | 1873

Franz Anton Schneider

Discovered fertilization in both plants and animals | 1875

Oscar Hertwig

Showed that nuclear division involves a longitudinal splitting of the chromosomes 1879

Walther Flemming

Coined the term mitosis | 1882

Walther Flemming

Coined the term chromosomes | 1888

Heinrich Wilhelm Waldeyer

Described the sex chromosome | 1902

Clarence E. Chung

Advanced the chromosome theory of heredity | 1902

Walter S. Sutton

Introduced the terms: genetics, homozygote, heterozygote F1 and F2 1902

William Bateson

Coined the words, gene, genotype and phenotype | 1909

Wilhelm johannsen

Suggested that exchanges between non-sister chromatids produce chiasmata 1909

Frans Alfons Jansses

Discovered different types of chromosomal abnormalities and aberrations 1917-23

Calvin B. Bridges

Noble prize for his development of the “Gene Theory” | 1933

Thomas Hunt Morgan

Quantity of DNA for each haploid set of chromosomes is constant in the different cells of an organisms 1948

Andre Boivin, Roger Vendrely, Collete Vendrely

Demonstrated that the numbers of adenine, thymine, guanine and cytosine groups in DNA are always equal 1950

Erwin Chargaft

Proposed the DNA model | 1953

James Dewey Watson | Francis Harry Compton Crick

Cracked mRNA code | 1961

Marshall W. Nirenberg | J. Heinrich Matthaei

Showed that the genetic language is made up of three letter words 1961

Francis H.C. Crick & colleagues

Nobel prize for DNA structure | 1962

James D. Watson F. H. C. Crick Maurice Hugh Frederick Wilkins

Worked out the complete genetic code | 1968

Marshall W. Nirenberg | Har Gobind Khorana

Nobel prize for deciphering genetic code | 1968

Marshall W. Nirenberg Har G. Khorana Robert William H. Holley

Bodies of tightly bound DNA and proteins that reside inside the cells of organisms.

Chromosomes

These bodies help keep genetic information safe and compact, making replication easy when it’s time for cells to divide.

Chromosome

Site of gene location

Chromosome

The complete set of chromosomes derived from both parents

Genome

46 chromosomes

Diploid

23 chromosomes

Haploid

Composition of chromosome

Long arm “q” Short arm “p” Centromere

A small body at the construction in a chromosome where it is attached to spindle fibers

Centromeres

A polar body which connect two strands of the chromosome

Centromere

Types of chromosomes

Metacentric Submeracentric Acrocentric Telocentric

Divides the chromosomes into two arms of equal length

Metacentric chromosome

Centromere is very close to but not located at the end of one strand

Acrocentric

The centromere is intermediate in position between that of the metacentric and acrocentric chromosomes

Sub-metacentric/ sub median centric chromosome

Centromere is found at the very distal part or at the tip of the chromosomes

Telocentric

Not normally found in humans

Telocentric

Determines the karyotype of normal human chromosomes | Done through karyotyping

Groupings

Output of karyotyping

Idiogram

Technique for preparation of chromosomes, known as culture techniques for blood or tissue

Karyotyping

The process of matching pairs of chromosomes in accordance with standard basis of classification

Karyotyping

a diagrammatic representation of a karyotype of an individual

Idiogram

Involves the use of fluorescent probes-pieces of DNA that bind to corresponding DNA chromosomes

Fluorescent In Situ Hybridization

Pyramidine base

Guanine Cytosine

Purine Base

Adenosine | Thymine

Probe tagged with fluorophores | Probe with target antibodies: biotin ID/ streptavidin

Fish :probe

Probes that hybridize along an entire chromosome are used to count the number of a certain chromosome, show translocations, or identify extrachromosomal fragments of chromatin

Whole- chromosomes painting probe

A mixture of smaller probes can be created that is specific to a particular region (locus) of DNA; these mixtures are used to detect deletion mutation

Special Locus-specific probe mixtures

Often used to count chromosomes, by binding to the centromeric region of chromosomes, which are unique enough to identify each chromosomes (except 13, 14, 21, 22)

Fish probe: special

Fish : dye

Primary colors Secondary colors ROY G BIV

Created by mixing the correct ratio of two sets of differently colored probes for the same chromosome

M-fish

Double vision fish | Designed so that the secondary color will be present or absent in cases of interest

D- fish

Break apart fish Absence of secondary colors Used to investigate translocation where only one of the breakpoints is known or constant

BA Fish

Spectral karyotyping This technique is used to identify structural chromosome aberrations in cancer cells and other disease conditions when Giemsa banding or other techniques are not accurate enough

Sky technique

A molecular technique used to simultaneously visualize all the pairs of chromosomes in an organism in different colors

Sky technique

A technique used to quantify the DNA copy number on a genomic scale

Digital karyotyping

Also known as virtual karyotyping w

Digital karyotyping

Uses digital cytogenetic analyzer

Digital karyotyping