Human Genetics Flashcards
Karyotype
Picture of 23 homoglous pairs, numbered in size order
autosomes
pairs 1-22
sex chromosomes
23rd pair (male - XY)(Female - XX)
Amniocentesis
Test performed on the fetus to determine if it has chromosomal mutations
Nondisjunction
Chromosomes not separating during meiosis
Gene mutations
Any change in the normal sequence of bases
Gene mutation effects
Wrong protein or no protein may result
chromosomal mutations
extra or missing chromosomes or pieces of chromosomes.
Often fetal
Many genes are affected
Down syndrome
extra 21st chromosome
stickle cell Anemia
Red blood cells are different shape
Recessive allele
PKU
Recessive disorder
Lacks amino acid that breaks down amino acid phenalainine
Tested for at birth
build up causes mental disorder
Tay Sachs
Recessive disorder
Lack of enzyme to break down certain type of fat
usually dies by the age of 4
Location of sex linked traits
X chromosome
gender more prone to sex linked disorders
males (only have one X)
can’t be carriers (have it or not)
DNA fingerprinting uses
Criminal cases, determination of parenthood, etc
DNA fingerprinting/gel eletrophereisis
1.) DNA is extracted from a cell
2.) restriction enzyme breaks DNA into smaller molecules
3.) DNA segments go into wells in the gel
4.) positive electric current gets added into gell
5.) smaller DNA fragments move towards positive and larger stays more to the negative
Selective breeding
controlling the reproduction of organisms/plants/fruits
Inbreeding
Stimulating reproduction within a species to get wanted traits only
Hybridization
crossing different species to get the best traits of both
Causing mutations
use of chemicals to increase variation by mutation
Genetic engineering
When DNA is altered or changed artificially
Polyploidy
Prevents meiosis of fruit so both sperm and egg are diploid to create larger fruit
Recombinant DNA result
Allows for bacteria to make proteins such as insulin
Recombinant DNA process
Enzymes cut the human donors DNA where the protein of interest is located and the bacteria’s plasmid is cut so sticky ends (protein of interest) will fit in. Then bacteria reproduces asexually with the protein of interest.
Transgenic Plants and Animals
Insertion of genes from other species to make survival of organism easier.
Cloning
Donor nucleus is combined with an egg cell (egg cell has no nucleus). Fetus preforms rapid mitosis, then finally gets planted in foster organism to deliver the clone.
