3.1 Flashcards
(41 cards)
genome
the whole of the genetic information of an organism
gene
short stretch of DNA that influences a specific characteristic
allele
the various, specific forms of a gene that usually vary from each other by 1 or a few bases
gene locus
the specific position of a gene on a chromosome
diploid state
having a pair of each kind of chromosome
haploid state
having 1 copy of each chromosome
outline the hierarchy of genetic information from biggest to smallest and briefly define each one of them
genome-> chromosome-> genes-> allele
genome: has entire set of chromosomes of an organism
chromosomes: long DNA molecules, contains many genes
genes: short stretches of DNA, usually code for 1 characteristic
allele: a specific form of a gene
Homozygous
have 2 copies of the same allele
Heterozygous
have 2 different alleles
Genotype
the alleles you have for a gene
Phenotype
trait you have as a result of alleles
Mutation
- changes in DNA sequence
- creates new alleles
- daughter cells contain DNA that differs from the DNA in the parental cell
causes of mutations
DNA replication mechanism (mistakes), exposure to radiation+chemicals (aka mutagen)
effects of mutations
- cause bases to be deleted/added to DNA sequence
- cause a different nitrogenous base to be used at a particular place
base-substitution mutation
mutation that changes one nitrogenous base in a sequence
effects of a base-substitution mutation
if an amino acid is changed, the polypeptide formed might work different or not at all. At the same time, it is possible that the amino acid sequence may still stay the same.
human genome project
aim to determine the complete sequence of the human genome and identify every gene it contains
how many bases estimated in the human genome?
3.2 billion bases
what did genetic sequencing develop
drought-resistant crops, antimalarial medicine, bacteria that consumes toxic waste
what is average human gene size?
2000 base pairs
sickle cell anemia
common genetic disease where malaria is endemic (commonly found)
symptoms of sickle cell anemia
extreme pain, weakness, heart attack, stroke, pneumonia, bone malformation, death
base substitution mutation in sickle cell anemia
GAG–> GTG in sense strand
mRNA base sequence that’s transcribed in sickle cell anemia
GAG–> GUG