The Nature of Genetic Material Flashcards
What carries a human genome?
23 chromosomes + mtDNA
How do we talk about genomes?
Haploid Way
***Means we have 2 copies per genome
- Always refer to genome as haploid set of genetic material
Genome
Haploid set of genetic material
***Means we have 2 copies per genome
How do we visualize chromosomes?
Geimsa dye staining + Microscopy + Sorting
Steps for visualizing chromosomes
- Isolate cells
- Stain with Dye
- Splash on slide
- Organized by person into karyotype
Karyotype
Image of organized chromosomes - refers to individuals complete set of chromosomes ALSO refers to the image of a persons organized chromosomes
Ex. 46XX or 46XY (humans have 23 pairs of chromosomes = 46 total)
Who makes Karyotpes
Cytogenetics
***Isolate blood –> Grow cells for cell replication –> Isolate chromsomes
Cytogenetics
Detect and interoret chromosomal abnormalities
***Often world in hospital + often part of prenatal testing (look at neonatal fluid)
Making Karyotypes
Cells are collected –> Cells are then grown for a little while to initiate DNA replication –> Chromosomes are analyzed
Reproductive Genetic Tesing
- Prenatal Testing
- Preimplantation genetic diagnosis
***Looks at babies cells
Prenatal Testing
- Amniocentesis (16 weeks) – very invasive
- Chorionic vili sampling (11 weeks) – very invasive
- Maternal Blood testing (9 weeks)
Maternal Blood tesing
Less invasive prenatal testing
***Do karytype from blood testing
- Newer - Blood smear - Pregnanet mom = has DNA from developing fetus --> can seperate them and anylzye
Preimplantation genetic diagnosis
Can only done with IVF –> fertilzie egg –> get blastocyte –> use mircotweezers –> get 1 cell –> Get genetics of cell –> choose zygote to implant
***More recent with CRSIPR becaise can edit genome
Curved Chromosomes
Doesn’t actually mean anything – just a way it fell on a slide
***When lkayrotyoe is done = blood cells in pippete and drop on slide and then they splatter = can lead to weird –> take pic and it might be curved because it landed curved
A – Telomere –> End of chromsomes
B – Eurochromatin
C – centromere
D – heterochromatin
E – Chromatid
F – Stister Chromatids
Eurochromatin Vs. heterochromatin
***Both banding pattersn
Eurochromatin – Light band
Heterochromatin – Dark band
Counting Number of Chromsomes
Count by the number of centromeres
Chromatd Counting
Example:
1 chromatid = 1 chromosome
Sister chromatids = 2 chromatids; 1 chromosome
Sister Chromatids
Replicated Chromatids
***Still 1 chromosome
Describing Chromsomes by Position of Centromere
Metacentric vs. Submetacentric vs. Acrocentric vs. telecentric
Metacentric – In the center
Submetacentric – Off but not too off
Acrocentric – very off center
Telocentric – at the end
Centromere
Proteins that bind to DNA to hold sister chromatids together
- Helps traffick chromsomes thorugh division
- Located in differnet places
Ways of describing chromosomes
- Size
- position of centromere
Telecentric in humans
There are no telecentric in humans
Human chromsomes
22 pairs of autosomes (non-sex)
1 Pair of sex chromosomes
What is seen in most karyotypes
Replicated pair of chromosomes – replicated pair of sister chromatids
***Karyotype – get pair of sister chromatids
Cohesions
Hold together sister chromatids together during mitosis
Seperation at the end of chromosomes
Only when cells under-go DNA replication – Seen in Karyotype because get bettwer pic if induce replication = get pair of sister chromatids in karyotypes
Type of DNA in Chromsomes
dsDNA – each Chromatid = dsDNA
Replication schematic
Homologous Chromosomes
One paternal + One Maternal
Normal State of Chromosomes
Not normally replicated homogougous chrosmomes with sister chromatids – only replicated if undergoing replications
Diploid
Have 2 homologous chromsomes (one maternal + One paternal)
***We are dilpoid
Haploid Number (N)
N –> Number of unique chromsomes in a set
Example – humans = 23
Ploidy
Number of comeplete sets of chromoeomes
***Number of copies
Example – humans = Diploid (2 sets)
Counting total chromosomes
Count the number of centromeres
Chromoeome math
of each type of chomosome (Ploidy #)X N = Total # of chromosomes
N = How many different kinds of chromsome
Example – Humans –> 2N=46
Example Chromosome Math
Chromosome haploid Number and PLoidy in species
Chromoosome haploid number (N) and Ploidy are specific to species
***Stays the same within species