1. Mendelian Genetics
An Overview

2. copyright cmassengale
Mendelian Genetics
4/20/2017
Gregor Johann Mendel
Between 1856 and 1863, Mendel cultivated and tested some 28,000 pea plants
He found that the plants' offspring retained traits of the parents
Called the “Father of Genetics"
copyright cmassengale

4. Chromosomes and Genetics
Genes are short regions of this DNA that hold the information needed to build and maintain the body
Heredity- the passing of characters from parents to offspring
Genetics- the branch of science that deals with heredity.

5. Pea plants have several advantages for genetics.
Several characters in garden plants exist in TWO clearly different forms.
Another advantage of peas is that Mendel had strict control over which plants mated with which.
Self fertilization- Each pea plant
has BOTH male & female reproductive
organs.
(stamens) –male reproductive organ
(pistil)- female reproductive organs.
Small
Grows easily
Matures quickly
Produced many off-spring
Fig. 14.1
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings

6. The Seven Characters Mendel Studied
Character –heritable feature (physical features)
Trait – each variant for a character (dominant or recessive)

7. Mendel’s initial experiments were Monohybrid crosses.
Monohybrid Cross- a cross that involves one pair of contrasting traits.
True-breeding- plants capable of producing offspring with only one form of a particular physical feature.
True-breeding plant served as the P generation (Parent) and their hybrid offspring are the F1 generation.
Mendel would then allow the F1 hybrids to self-pollinate to produce an F2 generation.
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings

8. Ratios: Mendel’s Results
When Mendel allowed the F1 plants to self-fertilize, the F2 generation included both purple-flowered and white-flowered plants.
The white trait, absent in the F1, reappeared in the F2.
Based on a large sample size, Mendel recorded 705 purple-flowered F2 plants and 224 white-flowered F2 plants from the original cross.

9. Mendel’s 4 Hypotheses
Alternative versions of genes account for variations in inherited characters, which are now called alleles
concept of alleles (P=purple, p=white)
For each character an organism inherits two alleles, one from each parent. This set of alleles is called its genotype.
If the two alleles at a locus differ, the dominant allele is fully expressed in the organism’s appearance (phenotype).
The law of segregation - the two alleles for a heritable character separate (segregate) during gamete formation and end up in different gametes
Allele for purple flowers
Locus for flower-color gene
Homologous
pair of
chromosomes
Allele for white flowers

10. Homozygous- when the two alleles of a particular gene present in an individual are the same
Heterozygous-when the alleles of a particular gene present are different.

11. Mendel’s law of Segregation
The two alleles for a character segregate (separate) when gametes are formed.

12. Mendel’s Law of Independent Assortment
~The alleles of different genes separate independently of one another during gamete formation.

13. Vocabulary Character –heritable feature
Trait – each variant for a character
True-breeding – plants that self-pollinate all offspring are the same variety
Monohybrid cross – a cross that tracks the inheritance of a single character
P generation – (parental) true-breeding
F1- (first filial) offspring of P generation
F2 – (second filial) offspring from F1 cross

14. Genetics and Prediction

15. Punnett Squares: Probability
Probability – predict likelihood of an event or outcome
Punnett square – grid for organizing genetic information
Can be used to make predictions about a cross between two organsims
Monohybrid Cross – cross between two parents and one trait

16. Rules to the Punnett Square
1. Figure out the genotypes of the parents.
TT & tt
Mom
Dad

17. Rules to the Punnett Square
2. Figure out what kinds of gametes the parents can produce.
TT & tt
Mom
Dad t T

18. Rules to the Punnett Square
3. Set up a Punnett Square for your mating.
Mom
T T t Tt Tt
Dad Tt Tt

19. Rules to the Punnett Square
Genotype- genetic make-up (the alleles an organism has.) Phenotype – Physical Features or characteristics.

20. Monohybrid Cross

21. Predictions for Two Traits
Dihybrid Cross – cross between two parents and two traits
Use a 4 x 4 Punnett square
Sixteen possible outcomes

23. Autosomal traits vs. Sex-linked traits
Autosomes – body chromosomes – first 22 pair
Same in both male and female
Sex Chromosomes – 1 pair, last pair
XX – Female
XY - Male

24. Sex Linked Traits
Traits controlled by recessive genes located on sex chromosomes (normally associated with the X chromosome)
Hemophilia – blood clotting enzyme
is absent
Queen Victoria’s family affected

25. Sex Linked Traits
Red – Green Colorblindness – individuals cannot distinguish between these two colors

26. Females
XRXR = normal
XRXr = carrier
XrXr = disease
Males
XRY = normal
XrY = disease

27. Pedigree Charts Males = Females = Generations = Roman Numerals
Individuals = Numbered sequentially
Trait Expressed = Filled in
Non Carriers = Empty
Carrier (not ill) = Half filled
Individual who carries a recessive allele that is not expressed

28. Pedigree Charts
Chart which shows how a trait and the genes that control it are inherited within a family
Identifies the presence or absence of particular trait in members of each generation

29. Today... Pedigree analysis
In humans, pedigree analysis is an important tool for studying inherited diseases
Pedigree analysis uses family trees and information about affected individuals to:
figure out the genetic basis of a disease or trait from its inheritance pattern
predict the risk of disease in future offspring in a family (genetic counseling)

30. Today... Pedigree analysis
How to read pedigrees
Basic patterns of inheritance
autosomal, recessive
autosomal, dominant
X-linked, recessive
X-linked, dominant (very rare)
Applying pedigree analysis - practice

31. Autosomal recessive traits
Trait is rare in pedigree
Trait often skips generations (hidden in heterozygous carriers)
Trait affects males and females equally
Most common ones
Cystic fibrosis
Sickle cell anemia

32. ex. achondroplasia (a sketelal disorder causing dwarfism)
Autosomal dominant traits
There are few autosomal dominant human diseases (why?), but some rare traits have this inheritance pattern
Only need to get the trait from one parent to be affected.
ex. achondroplasia (a sketelal disorder causing dwarfism)

33. X-linked recessive pedigrees
Trait is rare in pedigree
Trait skips generations
Males are more often affected than females
Affected fathers DO NOT pass to their sons,

34. ex. Hemophilia in European royalty
X-linked recessive traits
ex. Hemophilia in European royalty

35. X-linked dominant pedigrees
Trait is common in pedigree
Affected fathers pass to ALL of their daughters
Males and females are equally likely to be affected

36. Beyond Mendelian Genetics: Incomplete Dominance
Mendel was lucky!
Traits he chose in the
pea plant showed up
very clearly…
One allele was dominant over another, so phenotypes were easy to recognize.
But sometimes phenotypes are not very obvious…

37. Polygenic Traits
When a character (physical feature) is influenced by several different genes, the character is Polygenic.
Examples: Height, weight, color of skin, hair, and eyes
Cause slight and often variable range of differences throughout population

38. Incomplete Dominance Snapdragon flowers come in many colors.
If you cross a red snapdragon (RR) with a white snapdragon (rr)
You get PINK flowers (Rr)!
R R
r r 
Genes show incomplete dominance when the heterozygous phenotype is intermediate.
R r

39. Incomplete dominance R r R r
When F1 generation (all pink flowers) is self
pollinated, the F2 generation is 1:2:1
red, pink, white
R r
R R
R r
r r R r

40. Codominance
Two alleles affect the phenotype in separate and distinguishable ways.
Neither allele can mask the other and both are expressed in the offspring and not in an “intermediate” form.

41. Multiple Alleles Blood Type
Genes with 3 or more alleles are said to have Multiple alleles.
Blood type is determined by three alleles, IA, IB, and i.
The IA and IB alleles are both dominant over i, but neither IA, IB is dominant over the other (Codominance)

42. Environmental Impact on Phenotype
pH of the soil will change the color of hydrangea flowers from blue to pink

43. Environmental Impact on Phenotype

44. Genetic Disorders Sickle Cell Anemia Cystic fibrosis Hemophilia
A hereditary mutation is a mistake that is present in the DNA of virtually all body cells
Genetic Disorders arise from mutations
Sickle Cell Anemia
Cystic fibrosis
Hemophilia
Huntington's Disease
Hypercholesterolemia