Genetics Flashcards
(126 cards)
What is DNA
DNA is a polymer made from nucleotides strung together
How many base pairs of DNA
Thickness + Length
3,200,000,000 base pairs of DNA
A 2nm thick, 2 meters in length
Order of size DNA components
DNA-Nucleosomes-Chromatin-Chromosome
Who is Walter Flemming
Walter Flemming 1878
Discovered chromsoms (Gr. Coloured body)
Using a red aniline dye to stain cells of salamander embryos, he noticed red threadlike material that differently distributed and doubled during cell division.
Who is Theodor Boveri & Walter Sutton 1902
Theodor Boveri & Walter Sutton 1902
Chm theory of Inheritance
1. All chms have to be present for proper embryonic development to take place.
2. Chms occur in matched pairs of maternal and paternal chms which separate during meiosis in germ cells.
Thomas Hunt Morgan 1930
Thomas Hunt Morgan 1930
Chromosomes carry genes
Bred mutant white eye male red-eyed female
- all offspring had red-eyes.
Crossing these offspring (brother–sister mating)
- gave some white-eyed flies, that were all males.
X-chm carries discrete hereditary.
What do Chromosomes consist of
Chromosomes consist of DNA wrapped around protein histones.
DNA and nucleosome shape
DNA
(the double helix, 2nm)
Nucleosomes
(“beads on a string”, 10-nm)
What are Chromosomes (Chms)
- Linear units of DNA
- Come in pairs (homologous pairs)
- Each species has a characteristic number (this has no relation to the complexity of an organism)
- Bacteria do not have chms
- they have circular pieces of DNA
Number of chromosomes
The number of chms (and DNA) have no relation to complexity of an organism
Humans have 46 chromosomes (23 pairs)
What is Chromatin
Composed of DNA wrapped around proteins known as histones
Chromosome Anatomy
Chromosomes come in two forms:
unduplicated
Duplicated (made up of two identical sister chromatids)
Chromatids are joined at a region
called the centromere
Top + Bottom = Telomere
Centre = Centromere
Chromosome Identification
- G-banding (Giemsa)
- Produces light & dark bands characteristic for each Chm pair
- Light bands – GC rich, contain more active genes, replicated earlier (euchromatin)
- Other banding – R, Q, C, T …
What is G-banding karyotyping
G-banding karyotyping is a cytogenetic technique that uses Giemsa stain to produce a visual representation of chromosomes, called a karyotype, by creating distinct banding patterns that reveal structural and numerical chromosomal abnormalities.
How can you Making a Karyotype
Chromosomes organized by height & centromere location
Homologous Pairs of Chms
We have two copies of every chm
You received one from your mother & one from your father
Homologous pairs have the same genes but not always the same form of the gene (i.e alleles)
23 homologous pairs of chms = 46.
What is diploid
Diploid number is the total number of chms (i.e. human 46)
What is haploid
Haploid number is half the total number of chms (i.e. only of each pair). Only found in gametes to get only one set of chms from each parent.
Autosomes & sex chromosomes
Chm pairs 1-22 are called Autosomes
Chm pairs 23 are called the X and Y (sex chromosomes)
Sex chromosomes contain genes which determine gender
Two X’s - genetically female
One X and a Y - genetically male
What are Abnormal Karyotypes
Many or few chromosomes
Too many or too few chm (aneuploidy);
Trisomy - 3 copies of one chm
Only viable for # 13, 18, 21, X
Monosomy - one chm is missing its pair
Only viable for X or Y
What are Abnormal Karyotypes
Structural defects
Structural defects;
Deletion - loss of a piece of a chm
Duplication – a duplicated piece of chm
Translocation – rearrangement in the location of a piece of a chm
Inversion – a piece of chromosome is reversed end-to-end
Frequency of chromosome abnormalities
- 60% of spontaneous, first trimester abortions due chm disorders - 5% of stillbirths are due to chm disorders
- 1 in 200 live births have chm disorders
What is Non disjunction
As a cell gets ready to divide, chms are separated into each of the dividing cells. Failure in this chm distribution in the making of gametes, results in sperm or oocytes lacking, or gaining, a chm.
At fertilization these will produce cells (& subsequent embryos) containing only one or three chms instead of the usual pair.
Maternal Age and non-disjunction
Numerical chm abnormalities occur more in females during oogenesis.
The chance of this occurrence increases with maternal age
It is suspected that the aged molecular apparatus in these cells, involved in the cell division, leads to mistakes in chm separation as a cell divides.