Bio 3 - G Flashcards
Karyotype
A pair of chromosomes in a cell (nucleus) and they are in pairs as they are identical in size and this is during meiosis (synthesis of sex cells)
Down Syndrome
This is caused when there is an extra copy of chromosomes #21, instead of being a pair, there are three chromosomes now (trisomy 21)
What are other effects of abnormal chromosome counts?
There may be spontaneous abortion of fetus(pregnancy may end before the baby is fully developed/miscarriage)
What are the two ways mutations can occur (gene changes happen)
Through changes in the chromosome structure, and also changes within the locus (the two alleles within a chromosome)
genetic therapy
Different ways to treat these mutations or genetic disorders
What are the four different ways mutations are formed?
Deletion, Inversion, Translocation, Duplication
Cri du chat
This is like down Syndrome, another disorder, but instead of another chromosome #21 being added, chromosome 5 within an organism is modified. The odds are 1 in 20000 to 50000 newborns
Each chromosome has more than one locus, meaning they make up for more than one genetic trait
Okay!
The man usually has an X and Y sex chromosomes, while a women has two X sex chromosomes
Okay!
Locus
Is it’s the chromosome and contains two alleles that makes up a specific gene
SRY gene
Is located on the Y chromosome for male organisms, and when switched on (is like the “master sex switch”), and causes autosomes (the 1-22 chromosomes) to produce some male characteristics and genes
Pathenogenesis
Instead of doing meiosis to do sex cells reproduction, this allows an organisms to do it without a mate
Dominant genetic disorder
Unlike recessive (where if the gamete is r, if there are two alleles, Rr, then the disorder is not caused, but the person is a carrier), if they have the dominant allele, they have the disorder regardless of what the second allele is, but this is very rare.
What is additional note about dominant genetic disorders?
These are present and early, and therefore there might not be enough time for treatment to happen
Achondroplasia
dwarfism caused by a mutation(chromosome size change or inside the locus, alleles change) in a gene regarding bone growth