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gametes
sperm and egg haploid (n) cells produced in meiosis
- only have ONE copy of each chromosome
diploid (2n)
used to describe a nucleus that has chromosomes organised into PAIRS of homologous chromosomes
- most cells in humans
who is known as the father of genetics
Gregor Mendel
punnet grid
used to analyse results of genetic crosses
F1 generation
created a monohybrid cross between yellow-seed plants and green-seed plants
allele
different versions of genes - dominant or recessive
genotypes
symbolic representation of the pair of alleles possessed by an organism (typically represented as two letters).
homozygous
refers to having two identical alleles of the gene (identical letters)
hetreozygous
refers to having two different alleles of the gene (different letters)
dominant
the form of the trait always appears when the individual has it
recessive
the form of a trait that appears only when the individual has two alleles for it
carrier
an individual who has a recessive allele of a gene that does not have an affect on the phenotype.
phenotype
is the observable characteristics or traits of an organism.
exclusive genetically produced phenotypes
ABO blood type
Genetic conditions (Huntington's disease, cystic fibrosis, colour blindness)
exclusive environmentally produce phenotypes:
Learned behaviour (humans learning math, birds learning songs)
Acquired physical traits (scars, muscles from weight lifting)
Interaction between environment and genetics phenotypes:
Height in humans (maximum height is genetic, but poorly nourished may not reach it)
Cancer (has genetic components, but often triggered by mutagens)
punnett grid
used to show how the alleles of parents are split between their gametes and how new outcomes of alleles show up in their offspring
- shows all the possible combinations of genetic information for a particular trait in a monohybrid cross
Paternal generation (p generation)
the first of any genetic cross - purebred so the alleles are known
First filial generation (F1):
the first generation produced by the parents.
Second filial generation (F2 generation)
the product of the generation from the crossing of the F1 generation
phenotype plasticity
an organisms ability to express its phenotype differently depending on the environment - an effective way of adapting
what is PKU
Phenylketonuria is an example of a genetic disease due to a recessive allele.
- recessive because a carrier with one PKU allele can still produce the functioning enzyme because they have a normal allele
what causes PKU
Caused by mutations in the autosomal PAH gene that results in low levels of the enzyme phenylalanine hydroxylase.
Phenylalanine hydroxylase (enzyme) converts the amino acid phenylalanine into tyrosine (non toxic),
- phenylalanine can become toxic if there is an abundance of protein in a child's diet resulting in high levels of the amino acid and impaired brain development.
- chromosome 12