Patterns of Inheritance

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Patterns of Inheritance

-Introduction to Genetics-
Genetics: the science of heredity and
variation
 GENETICS- deals with the principles of heredity
and variation in all living things.
 core science seeks to understand the molecular
and physical bases of biological diversity,
mechanism, and the principles that govern
heredity from one generation to another.
 derived from “gen”; become or to grow into
something.
 coined by William Bateson in 1906.
The Beginnings of Genetics

 began with works of Gregor Mendel; an Austrian


monk (1822-1884).
 1886- discovered that hereditary characteristics
were determined by elementary “factors”
(called genes) that are transmitted between
generations in uniform predictable fashion.
 Prior to Mendel, heredity was regarded as a
"blending" process and the offspring were
essentially a "dilution "of the different parental
characteristics.
 Theory of Pangenesis- (Aristotle;
384-322 B.C.): proposed that
semen was formed everywhere in a
man’s body and such semen
reflected the characteristics of the
body part from where it was
formed.

 Theory of Inheritance of Acquired


Characteristics- (Jean Baptiste de
Lamarck; 1744-1829): body
modifications acquired by use or
disuse.
 Germplasm Theory (August Weismann;
1834-1914): proposed that germplasm or
sex cells perpetuated themselves in
reproduction generation after generation.

 Chromosome Theory of Inheritance


(Thomas Hunt Morgan in 1910 and Calvin
B. Bridges in 1916): confirmed the
discovery of the sex chromosomes and the
demonstration of the association between
specific genes.
Advances of Genetics
 1944 to present-the era of molecular
genetics, beginning with the
demonstration that DNA is the genetic
material and culminating with our current
explosion of knowledge due to
recombinant DNA technology.
 1944- O. Avery; showed conclusively that
deoxyribonucleic acid—DNA—was the
genetic material.
 1953- James Watson and Francis Crick
worked out the structure of DNA
 1968-1973- W. Arber,H. Smith, and D.
Nathans: discovered and described
restriction endonucleases- the enzymes
that opened up our ability to manipulate
DNA through recombinant DNA technology.
 1997- the first mammal was cloned, a sheep named Dolly.
 2000- The sequence of the entire human genome was
determined.
Application of Genetics
 Plant, Animal and Microbial Development:
improvement by selective breeding has yield pest
resistant varieties of rice, corn and wheat. In
animals, advances have supplied the protein needs of
the growing population. In Industry, microbial strains
have increased productivity in fermented food and
food products.
 Medicine: Diseases and abnormalities that have
genetic bases have been identified and appropriate
preventive measures described.
 Genetic Counseling: Knowledge of the inheritance of
certain desirable or undesirable characteristics, as
well as the pedigrees of the prospective parents is
the bases of genetic counseling.
 Legal Applications: solve problems of
disputed parentage in settling child
support, estate claims or even baby mix-
up in hospitals.
• DNA profiles “fingerprints”- have been
found to be an accurate tool in
identifying criminals.
 Recombinant DNA Technology: involves
joining of DNA segments from different
biological sources producing genetically
modified organism (GMO) or transgenic
plants, animals or microorganisms.
• Therapeutic proteins, hormones and
vaccines are also produced.
Three General Areas of Genetics
 Classical Genetics- concerned with the chromosomal theory of
inheritance; that is, the concept that genes are located in a linear
fashion on chromosomes and that the relative positions of genes
can be determined by their frequency in offspring.
 Molecular Genetics- is the study of the genetic material: its
structure, replication, and expression, as well as the information
revolution emanating from the discoveries of recombinant DNA
techniques.
 Evolutionary Genetics- is the study of the mechanisms of
evolutionary change, or changes in gene frequencies in
populations.
MENDELIAN GENETICS
PRINCIPLE OF UNIT CHARACTERS
 The inherited characteristics of an organism
are controlled by factors or genes and these
occur in pairs.
 (Note: The terms allele and gene may be
used interchangeably).
 Each allele corresponds to a certain
characteristic or trait.
 Each trait carries two copies of a unit of
inheritance, one inherited from the mother
and the other from the father.
 Genotype- the combination of alleles in an
individual.
 The genetic make up of an organism, a
description of the gene it contains.
 Phenotype- the characteristic that can be
observed in an organism
• Result from any behavioral, biochemical,
morphological or physiological
manifestation of the genotype.
Gregor Johann Mendel
 an Austrian Monk, born in Brünn,what is now Czech
Republic in 1822.
 son of peasant farmer, studied Theology and was
ordained priest Order St. Augustine.
 went to the University of Vienna, where he studied
botany and learned the Scientific Method.
Mendel’s Peas
 True-breeding plants were the basis of Mendel’s experiments.
 True-breeding: self-pollinating plants that produce offspring
identical to themselves.
 Ex. Tall plant seeds only produce tall plants
 Mendel cross-pollinated the pea plants by joining male and female
reproductive cells from two different plants.
 This allowed him to study results of plants with different
characteristics.
The garden pea was an ideal organism for study because:
• Vigorous growth
• Easy to cross fertilize
• Produces large number of offspring each generation
MENDEL’S LAWS OF INHERITANCE

 His work, entitled “Experiments on Plant Hybrids” was


published in 1866
 Like many great scientific discoveries, it was ignored for
34 years
 In 1900, Mendel’s work was rediscovered by three
botanists working independently
–Hugo de Vriies off Holand
-Carl Correns off Germany
-Erich von Tschermak off Austria
Mendel’s Peas continue…

 Mendel studied 7 different


traits in pea plants.
 Traits are inherited
characteristics that vary from
individual to individual.
 Each trait each had two
different forms or alleles.
• Pea plant height can be either
tall (T) OR short (t).
Mendel analyzed traits with discrete alternative forms (one of two options)
– purple vs. white flowers
– yellow vs. green peas
– round vs. wrinkled seeds
– long vs. short stem length
 Homozygous means to have 2 identical alleles for a
trait. Ex. TT or tt True-breeding pea plants are
homozygous.
 Heterozygous means to have 2 different alleles for a
trait. Ex. Tt Hybrid plants are heterozygous.
 Dominant – the allele of a gene that masks or
suppresses the expression of an alternate allele.
 Recessive – an allele that is masked by a dominant
allele; does not appear in the heterozygous condition,
only in homozygous.
Terminology used in breeding experiments:
 – Parental generation is the P generation.
 – Progeny of P generation is the first filial generation,
-" designated F1.
 – When F1 interbreed or are “selfed”,
 – the second filial generation, F2, is produced.
 – F2 is always F1 x F1
Law of Dominance
 Dominant traits are expressed if only one allele is present.
 By convention, letters may be used to designate alleles:
– with the dominant a capital letter (T)
– and the recessive in lowercase (t).
 Ex - Tall allele (T) is dominant and short allele is recessive (t)
 F1 generation = All plants were tall even though Tt, both TT and Tt plants are
Tall

 Recessive traits are expressed when the dominant allele not present. Two alleles
are needed for the recessive trait to be expressed. (lower case letter)
 Ex from pea plants- short allele is recessive (t) Only tt plants are short.
Monohybrid Crosses and Mendel’s Principle of
Segregation

 Monohybrid cross involves true-


breeding strains that differ in a
single trait.
 a cross between homozygous
individuals that are different from
each other at one gene locus.
 To determine whether both
parents contribute equally to the
phenotype of a particular trait in
offspring.
– a set of reciprocal crosses is
performed.
Do recessive alleles disappear?
 Mendel allowed all 7 kinds of F1 plants to produce an F2 generation by
self-pollination. (In other words, he crossed the F1 generation with itself.)
Punnet Squares
 is a grid that enables one to predict the outcome of simple
genetic crosses
 – proposed by the English geneticist, Reginald Punnett.
 A Punnet square is one way to predict the outcome of a cross
by showing all the possible combinations of all the possible
gametes.
 Gametes of the female parent are written as column headers
of a table while those of the male parent are written as row headers.
 The alleles of the gametes of the female and male parents are then
combined at the intersections of the columns and rows to derive the
genotype of a progeny.
 The genotypes are then summarized by identifying different genotypes
and obtaining their counts.
Using a Punnett Square
Steps:
1. Determine the genotypes of the parent organisms
2. Write down your "cross" (mating)
3. Draw a p-square

Parent genotypes:
TT and t t

Cross
TT X tt
 4. "split" the letters of the genotype for each parent & put them "outside" the
p-square
 5. determine the possible genotypes of the offspring by filling in the p-square
 6. summarize results (genotypes & phenotypes of offspring).
Monohybrid cross: F2 generation
 If you let the F1 generation self-fertilize, the next monohybrid cross would
be:
Tt x Tt
(tall) (tall)
Secret of the Punnett Square
Practice Punnett Square
Ex: Flower Color
 P = purple (dominant

 p = white (recessive)

Cross a homozygous Purple (PP) with a


homozygous white (pp):
Two-trait Inheritance
 A dihybrid cross is a cross between two different genes.

 matings that involve parents that differ in in two genes (two independent
traits).

 Formulated Law of Independent Assortment

 The law states that genes for different traits can segregate independently
during the formation of gametes.

 All possible combinations of factors can occur in the gametes.


 Studied 2 phenotypes: shape and color of seeds of peas with two
alternative traits:
 Round vs. wrinkled seeds, and yellow vs. green seeds.
 Pure breeding round yellow seeded plants with pure breeding wrinkled
green seeded plants.

 R= (round) and r= (wrinkled) be the alleles of the gene for seed shape.
 Y= (yellow) and y= (green) the alleles for seed color.
 Assume then that the female and male parents were RRYY (round and
yellow) and rryy (wrinkled and green), respectively.
 Upon fertilization, all F1 seeds would have a genotype of RrYy producing
round and yellow seeds.

 Mendel crossed RrYy x RrYy and found that alleles for seed shape and color
 Based on the Law of Independent assortment,
F1 males and females may form 4 possible
gametes: RY, Ry, rY, and ry.
 If F1 individuals are self or intercrossed, 16
possible combinations of gametes in the F2
resulting in 9 genotypes with
1:2:2:1:4:1:2:2:1 genotypic ratio.
 4 phenotypes with a ratio of 9:3:3:1
 Assume that in guinea pigs, dark brown fur (B) is
dominant to black fur (b). If you mate a black
guinea pig with a homozygous brown guinea pig,
what proportion of the progeny will be homozygous?
A.100%
B.50%
C.35%
D.none

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