carriers can be tested and advised on probabilities based on Mendelian inheritance
either by amniocentesis or by sampling chorionic fluid
fetuses can be tested
there have been worries of discrimination against carriers
in US law, a genetic nondiscrimination act has been passed
Traditionally
Counselling and disorders
Mendel
ethical issues
people thought the traits of offspring result from parental traits blending
showed that traits are not blended, but are passed on according to patterns of probability
Hybrid
the offspring of two organisms that differ in their traits
Dominant trait
Recessive trait
usually, heterozygous dominant people still express correct phenotype
Basic definitions
some recessive alleles result in a deleterious phenotype
marrying a close relative ergo a bad idea
Introduction
more common the recessive allele in the population, greater the chance of homozygous recessive offspring
Recessively inherited
Cystic fibrosis
homozygous = worst symptoms, heterozygous still causes issues
F0 = the generation being crossed
Generation terminology
when heterozygous, effects on blood cells not severe, but better response to malaria
F1 = the offspring of F0
F2 = the offspring of F2
codominant alleles
higher frequency in african americans
one dominant, one recessive
Different versions of genes, that may give different traits, are called "alleles"
Examples
treatment either involves gene therapy or daily antibiotics + manual clearing of airways by pounding one's chest to prolong life
mutant allele makes haemoglobin that clumps up
Example = if a plant with white flowers is crossed with a plant with red flowers, if a majority of plants turn up red, red flowers is the dominant trait
two copies of genes coding for either for dominant or for recessive trait
Heterozygous
abnormal handling of Cl- ions leads to too much mucus production
airways can be clogged and lungs prone to infection
if a hybrid is formed, the trait that shows up most often
A trait that shows up only rarely compared to the dominant trait
Homozygous
Eg.sickle cell anaemia
Law of segregation
Some disorders have evolutionary advantages in some situations
Mendel's laws
Inherited disorders
protective effect against malaria
Law of independent assortment
less common, lethal dominant ones especially so (carriers would die without reproducing in most cases)
1 allele enough to induce phenotype
a type of dwarfism
If both parents are homozygous dominant, all offspring are too
Achondroplasia
majority of population is homozygous recessive
Lethal dominant disease
affects older people, hence tends to be passed on
When organisms are bred, multiple outcomes are possible
Dominantly inherited disorders
Example
Law of Segregation
genes + environment
often, traits affected are polygenic
experiment
Multifactorial
pleiotropy
the traits of one gene are expressed only if another is present
epistasis
Deviations from Mendelian inheritance
here, he crossed yellow and round with green and wrinkled
basic rules of probabilities
the probability of one two mutually exclusive events happening is derived by adding
Take 2 heterozygous parents (Rr and Rr)
A) calculate probabilities of each genotype using Punnett's squares
So, let's take some genetics examples
Using probabilities for more than one trait
This approximated the ratio 9:3:3:1 for the traits (Both dominant : Trait 1 dom, Trait 2 rec : Trait 1 rec : Trait 2 dom : both rec)
Because it was 9:3:3:1 , it follows that alleles for different traits are segregated independently, hence the law
the probability of two independent events co-occuring can be derived by multiplication
i.e, Probability (A and B) = Probability A x Probability B
Example, the probability of a die landing on 5 or a 6 is given by 1/6+1/6
He found that colour was inherited independent of how shape/texture were inherited
If one trait was transmitted along with the other (dependent assortment) it would have been 3:1 (Both dominant : both recessive)
therefore, we can directly calculate probabilities
Floating Topic
so if you cross a recessive organism with an unknown one
Mendel saw these with dihybrid crosses (i.e, studying two different traits)
polygenic inheritance
Using punnett's squares is tedious
B) Use addition rule to add up
One can do a "test-cross"
otherwise heterozygous dominant
altered patterns of expression
Working with probabilities
but F2 showed on average 1 of every 4 plants to be recessive
the allele for the recessive trait was not blended out
Implication
Law of Independent Assortment
i.e, Probability (A or B) = probability A + probability B
he found that in some cases, when crossing purple x white plants
if all offspring are dominant, then the unknown one was homozygous dominant
codominance
one gene can control more than one phenotype
so the probability of 1 coin landing heads is 1/2 ; the probability of two coins both landing heads is 1/2 x 1/2 = 1/4
either self-polinated or cross pollinated peas with different traits (Eg, flowers)
partial dominance
the phenotypes of both alleles are simultaneously expressed
many genes contribute to a phenotype
all F1s were purple
Mendel and peas
Application
two partially dominant alleles give an intermediate phenotype
for every four offspring, you usually get 2 dominant, 2 recessive
mendel followed crosses for F1 and F2 generations atleast
Nervous system degenerates
Example: mental illness, alcoholism, diabetes, heart disease
If both parents are homozygous recessive, all offspring are too
When both are heterozygous
Mendel and the Gene idea
Huntington's Chorea
in other words, when the two alleles are passed on, they are segregated
