Importance of genetics

Understanding hereditary diseases and to develop new treatments Donor matches Paternity Forensics Evolution

Genetic Testing
Would you want to know?

Ethical concerns Cost Insurance companies

see GATTACA

Genes- genetic material on a chromosome that codes for a specific trait Genotype- the genetic makeup of the organism Phenotype- the expressed trait Allel- an alternative form of a gene

Dominance Mechanism Two alleles are carried for each trait In true-breeding individuals, both alleles are the same (homozygous). Hybrids, on the other hand, have one of each kind of allele (heterozygous). One trait is dominant, the other trait is recessive

Genetic Information
Genes are traits

Eye color
Ear lobe connectedness

Genes produce proteins

Enzymes are proteins

Homologous Chromosomes
gene: location

allele: specific trait

Allele Example
Gene = eye color Alleles brown blue green lavender

Allele Examples

appearance

eye color: homozygous

Allele Examples
appearance

eye color: heterozygous, brown dominant over blue

Genotype vs Phenotype
genotype homozygous (dominant) heterozygous homozygous (recessive) appearance
Phaner = visible

phenotype

Punnett Square
If male & female are heterozygous for eye color
male

female

brown: blue:

3/4 offspring 1/4 offspring

PKU Each parent carries one gene for PKU.

P
P P

p
P

P
X P

p
p

P
P p

p
p p

Possible genotypes: 1PP

2Pp 1pp
PKU

Possible phenotypes:no PKU

Compare this to what would have happened if one parent was homozygous for sickle cell.
HbA HbS HbA X HbS HbS HbS HbA HbA HbS HbA HbA HbS

HbA
HbS

HbA
HbS

all offspring are carriers of sickle cell trait

Autosomes and Sex Chromosomes

Red-Green Color Blindness Sex-linked trait

XC Y XC Y Xc Y

XC
Normal male

Y
XC X

XC XC XC

XC

Xc

Xc

Normal female recessive gene

Xc

Possible outcomes:

XCXC XCXc XCY

Normal Normal Normal female Female male (carrier)

XcY
Color-blind male

Dominance
Most traits show complete dominance Blending unexpected

allele

gene

E e

unconnected earlobe connected earlobe

unconnected

P
gametes

EE x ee
connected

E Ee

F1

F1
gametes

Ee x Ee 1/2 E 1/2 e 1/2 E 1/2 e

E e Ee ee

Punnett Square

E e

EE Ee

F2

1 EE 2 Ee 1 ee

generation

genotypes

unconnected

E:e

P F1 F2

EE, ee Ee EE, 2 Ee, ee

50% 100% 75%

1:1 1:1 1:1

phenotypes
ratio of alleles in the population

Basis of the Castle-Hardy-Weinberg Law

Genotypes

Phenotypes

Experiment to determine dominant vs. recessive

Genetic Sleuthing
My eye color phenotype is brown.

What is my genotype?

Pedigree

phenotypes
infer genotypes

Alternative: look directly at the DNA

Complexities
Multiple genes for one trait
Example: eye color

Blended traits (incomplete dominance) Influence of the environment

Disorders
Downs Syndrome (chrom 21) Alzheimers (chrom 1, 10, 14, 19, 21) Huntingtons (chrom 4)

Tongue Roller

R = Tongue Roller r = Unable to Roll Tongue

Widows Peak

W = Widows Peak w = Lack of Widows Peak

Free Ear Lobe

Attached Ear Lobe

E = Free Ear Lobe e = Attached Ear Lobe

Hitchhikers Thumb

Hi = Straight Thumb hi = Hitchhikers Thumb

Bent Little Finger

Bf = Bent Little Finger bf = Straight Little Finger

Mid-digital Hair

M = Mid-Digital Hair m = Absence of Mid-Digital Hair

Dimples

D = Dimples d = Absence of Dimples

Short Hallux

Ha = Short Hallux ha = Long Hallux

Short Index Finger

Ss = Short Index Finger S1 = Long Index Finger

*Sex-Influenced Trait

Kiss me, you fool.

Pttttthhhhhhhtttt!
Presentation created by J. Kenyon