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