Week 2 Part 2 Flashcards
law of segregation
Paired sets of elementen separate when gametes form. When gametes combine at fertilization “elementen” combine in new pairs
- Segregation of alleles corresponds to the segregation of chromosomes during meiosis
- Homologous chromosomes are separated into separate gametes
Allies for genes on these chromosomes are separated into separate gametes
Gametes are haploid
Have only one allele for each gene (one of each chromosome)
When gametes combine in fertilization, have new combination of alleles for each gene.
Gene
sequence of DNA that codes for a protein and thus determines a trait
Allele
- An alternative form of same gene.
- each person has 2 alleles for each gene
Homozygous
Two identical alleles for same gene
Heterozygous
having two different alleles for same gene
Genotype
An organism’s genetic makeup
Phenotype
Measurable traits expressed by a combination of alleles
wild type phenotype
Mutant phenotype is a variant of the normal allele that arose from a gene mutation
homozygous dominant
Genotype is depicted at TT
homozygous recessive
genotype is depicted as tt
Allele combination - punnet squares
Can use information to deduce genotype of parental and filial generations
- Predict probability of offspring have specific genotype/ phenotype
- Cross known genotype with known genotype to fill in missing information
Autosomal dominanat
-One copy of allele must be present for phenotype to occur
-Will be present in any individual that inherits allele
-Will be present in every generation
EX-
—Huntington’s disease
—Marfans
—-Lactose intolerant
—-Transmission will only stop after a generation in which no one inherits the mutation.
autosomal recessive
Requires two copies of allele for phenotype to occur
- Each parent must have had at least one copy of allele
- A heterozygote of an autosomal recessive trait is a carrier - only exist in recessive stuff
- Do not have trait because they only have on copy of allele
- Can transmit trait to future generation
-Possible to skip generations
-Examples of autosomal recessive diseases
CF
Sickle-cell
Tay-Sachs
carrier
Only exists in recessive
consanguinity
production of offspring by relative; - inbreeding or close breeding
Dominant traits =
from an allele that causes “ gain in function”
- Mutant allele generates protein that is different and blocks the function of the protein produced by the normal/ wild type allele
- Masks appearance of genetic trait
Recessive traits
- from allele that cause “ loss of function”
- Mutant allele prevent production of any protein or allows production of a non-functional protein
Heteroygote can compensate with the protein produced by the one remaining normal allele
-Trait that is masked
Mendel
How did he do it
- first person to establish rules to predict the inheritance patterns of a specific traits
- started crossing plants and following a single trait over multiple generations