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