• • • • Genetics: The scientific study of heredity Character: heritable feature Trait: each variant for a character True-breeding: plants that self-pollinate all offspring are the same variety • Allele: alternate version of a gene • Dominate allele: An allele which is expressed (masks the other) in the heterozygote & homozygote • Recessive allele: An allele which is present but remains unexpressed (masked) in the heterozygote
• Homozygote – pair of identical alleles for a character
– Homozygous dominant- BB – Homozygous recessive - bb
• Heterozygote – two different alleles for a character (Bb) • Genotype – genetic makeup; combination of alleles an organism has • Phenotype – appearance of an organism; the characteristics determined by the genotype and environmental influences
• 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
by crossing various strains and observing the characteristics of their offspring. wrinkled) Flower color (purple. he would get offspring which produced round and wrinkled peas in a 3:1 ratio. white) Plant height (tall. When he crossed these F1 plants. the offspring (F1 gen. yellow) Pea shape (round.History
• • • • Principles of genetics were developed in the mid 19th century by Gregor Mendel an Austrian Monk Developed these principles without ANY scientific equipment . however.) always had round peas.only his mind. Experimented with pea plants. Studied the following characteristics:
– – – – Pea color (Green. short)
• • •
Made the following observations (example given is pea shape) When he crossed a round pea and wrinkled pea.
– Pea plants are available in many varieties with distinct heritable features (characters) with different variants (traits). publishing as Benjamin Cummings
. fertilizing ova with their own sperm. Inc. – However.• Pea plants have several advantages for genetics. pea plants typically self-fertilize.1
Copyright © 2002 Pearson Education.. – Another advantage of peas is that Mendel had strict control over which plants mated with which. – In nature. Mendel could also move pollen from one plant to another to cross-pollinate plants. 14. – Each pea plant has male (stamens) and female (carpal) sexual organs.
• Mendel would then allow the F1 hybrids to selfpollinate to produce an F2 generation. true-breeding pea varieties. Mendel would cross-pollinate (hybridize) two contrasting.. publishing as Benjamin Cummings
– The true-breeding parents are the P generation and their hybrid offspring are the F1 generation. • It was mainly Mendel’s quantitative analysis of F2 plants that revealed the two fundamental principles of heredity: the law of segregation and the law of independent assortment.• In a typical breeding experiment.
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egg. • Law of Independent Assortment: Two or more alleles will separate independently of each other when gametes are formed
. etc…) are formed each gamete will receive one allele or the other.Laws of Inheretance
• Law of Segregation: When gametes (sperm.
Inc.2 parents. the F1 hybrids from a cross between purple-flowered and whiteflowered pea plants would have pale purple flowers.. the F1 hybrids all have purple flowers. 14. just a purple as the purple-flowered Fig. the two alleles for a characters are packaged into separate gametes
• If the blending model were correct. • Instead.By the Law of Segregation.
Copyright © 2002 Pearson Education. publishing as Benjamin Cummings
• Genetic problems can be easily solved using a tool called a Punnett square.
– Tool for calculating genetic probabilities
A Punnett square
look at the following example
– Tallness (T) is dominant over shortness (t) in pea plants. A Homozygous tall plant (TT) is crossed with a short plant (tt). What is the genotypic makeup of the offspring? The phenotypic makeup ?
.Monohybrid cross (cross with only 1 trait)
• Problem: • Using this is a several step process.
Determine alleles of each parent. or along the side of the punnett square. separate them.
. these are given as TT. Take each possible allele of each parent. 2. and tt respectively.Punnet process
1. and place each allele either along the top.
write the letter for each allele across each column or down each row. • The resultant mix is the genotype for the offspring.
. • In this case.Punnett process continued
• Lastly. and simply a "Tall" phenotype. each offspring has a Tt (heterozygous tall) genotype.
Punnett process continued
• Lets take this a step further and cross these F1 offspring (Tt) to see what genotypes and phenotypes we get. • Since each parent can contribute a T and a t to the offspring. the punnett square should look like this…
. & tt) in a 1:2:1 genotypic ratio. This is the common outcome from such crosses.Punnett process continued
• Here we have some more interesting results: First we now have 3 genotypes (TT. We now have 2 different phenotypes (Tall & short) in a 3:1 Phenotypic ratio.
Copyright © 2002 Pearson Education. absent in the F1.• When Mendel allowed the F1 plants to selffertilize.
Fig. reappeared in the F 2.
• Based on a large sample size. 14.
– The white trait.. the F2 generation included both purpleflowered and white-flowered plants. Mendel recorded 705 purple-flowered F2 plants and 224 white-flowered F2 plants from the original cross. publishing as Benjamin Cummings
the two alleles for each character segregate during gamete production
.Law of Segregation .
Law of Independent Assortment – Each set of alleles segregates independently
Test cross – designed to reveal the genotype of an organism
Mendelian Inheritance and Rules of Probability
• Rule of Multiplication – the probability that two events will occur simultaneously is the product of their individual probabilities • Probability that an egg from the F1 (Pp) will receive p = ½ • Probability that an sperm from the F1 (Pp) will receive p = ½ • Probability that a of offspring receiving two recessive alleles during fertilization
what is the probability of an F2 having the genotype YYRR? • Go page 267 and work #9 and #10
.Rule Applies to dihybrid Crosses
• For a dihybrid cross. YyRr x YyRr.
. • Example:
– 2 traits are being analyzed – Plant height (Tt) with tall being dominant to short.Dihybrid Crosses
• Dihybrid crosses are made when phenotypes and genotypes composed of 2 independent alleles are analyzed. – Flower color (Ww) with Purple flowers being dominant to white. • Process is very similar to monohybrid crosses.
.Purple plant with a pure-breeding Short.Dihybrid Cross Example
• The cross with a pure-breeding (homozygous) Tall. white plant should look like this.
Dihybrid Cross Example continued
• Take the offspring and cross them since they are donating alleles for 2 traits. (The mathematical “foil” method can often be used here)
. Tw. each parent in the f1 generation can give 4 possible combination of alleles. TW. or tw. The cross should look like this. tW.
and 1/16 showing both recessive traits. This is evidence of Mendel's Law of independent assortment
. 3/16 & 3/16 showing one of the recessive traits.Dihybrid Cross Example continued
• Note that there is a 9:3:3:1 phenotypic ratio. 9/16 showing both dominant traits. • Also note that this also indicates that these alleles are separating independently of each other.
Other Factors: Incomplete Dominance
• Some alleles for a gene are not completely dominant over the others. This results in partially masked phenotypes which are intermediate to the two extremes.
• Two alleles affect the phenotype in separate and distinguishable ways. • Example: red flowers that are crossed with white flowers that yield red and white flowers. • Neither allele can mask the other and both are expressed in the offspring and not in an “intermediate” form.
Which of the following crosses could produce the highest percentage of roan cattle? • A) roan x roan • B) red x white • C) white x roan • D) red x roan • E) All of the above crosses would give the same percentage of roan.• 1) In cattle. roan coat color (mixed red and white hairs) occurs in the heterozygous (Rr) offspring of red (RR) and white (rr) homozygotes. When two roan cattle are crossed. the phenotypes of the progeny are found to be in the ratio of 1 red:2 roan:1 white.
Page 267 and work #6
• Most genes have multiple phenotypic effects. The ability of a gene to affect an organism in many ways is called pleiotropy.
C is for color and the dominate allele must be present for pigment (color) to be expressed.
• Epistasis occurs when a gene at one locus alters or influences the expression of a gene at a second loci. In this example.
• Qualitative variation usually indicates polygenic inheritance. Pigmentation in humans is controlled by at least three (3) separately inherited genes. This occurs when there is an additive effect from two or more genes.
There are not just "tall" or "short" humans
. Eg.Other Factors: Continuous Variation
• Many traits may have a wide range of continuous values. Human height can vary considerably.
Sex Linkage and crossing over
.Chromosomes and Classical Genetics
• Walter Sutton in 1902 proposed that chromosomes were the physical carriers of Mendel's alleles • Problems arose however regarding the following question: • Why are the number of alleles which undergo independent assortment greater than the number of chromosomes of an organism? • This was explained understanding of 2 additional factors.
and will therefore always be expressed
. • If a recessive allele exists on the X chromosome.Sex Linkage
• All chromosomes are homologous except on sex chromosomes. • Sex chromosomes are either X or Y. if XY it is male. • If an organism is XX. it is a female. It will not have a corresponding allele on the Y chromosome.
Sex Linkage Example
• Recessive gene for white eye color located on the Xw chromosome of Drosophila. • If a female receives the Xw chromosome. • All Males which receive this gene during fertilization (50%) will express this. It will usually not be expressed since she carries an X chromosome with the normal gene
• Thus a vast majority of those affected are males. Thus all those affected are related to European royalty.Human Sex Linkage
– Disorder of the blood where clotting does not occur properly due to a faulty protein. and is recessive.
– First known person known to carry the disorder was Queen Victoria of England. – Occurs on the X chromosome.
Hemophilia and Royalty
or IO. and is denoted by IB • Type O denotes having neither A or B surface antigen. and is denoted by IA • Type B denotes having the B surface antigen. IB.Other Factors: Multiple Alleles
• Phenotypes are controlled by more than 1 allele. This is referred to as having multiple alleles – Human blood types are designated as A. Eg. – There are 3 alleles which determine blood type IA. and is denoted by IO
– There are several blood type combinations possible
• • • • A B AB (Universal recipient) O (Universal donor)
. B or O.
• ABO Blood typing
– Humans have multiple types of surface antigens on RBC's – The nature of these surface proteins determines a person's Blood Type.
• Type A denotes having the A surface antigen. Blood types are regulated by 3 separate genes.
• Not usually a problem except with pregnancy. • People are either Rh+ or Rh. Type AB can accept any blood types because it will not attack A or B surface antigens. • It is possible that an Rh. • Thus.based on a basic dominant/recessive mechanism. and is detectable and treatable. Type O persons can ONLY receive blood from other type O persons.
. They are known as Universal Recipients. a type AB person could only donate blood to another AB person. • There is another blood type factor known as Rh. However. Type O persons are Universal donors because they have NO surface antigens that recipients' immune systems can attack. This is because the recipient has antibodies which will attack any foreign surface protein.mother can carry an Rh+ fetus and develop antibodies which will attack & destroy the fetal blood • This usually occurs with 2nd or 3rd pregnancies. • Also.Blood & Immunity
• A person can receive blood only when the donor's blood type does not contain any surface antigen the recipient does not.
• Environmental effects:
– Sometimes genes will not be fully expressed owing to external factors. The end product of the pathway may be disrupted. Example: Human height may not be fully expressed if individuals experience poor nutrition.Other Factors
• Gene interaction:
– Many biological pathways are governed by multiple enzymes. If any one of these steps are altered. involving multiple steps.
Environmental Impact on Phenotype
pH of the soil will change the color of hydrangea flowers from blue to pink
The Average American Phenotype
And Genetic testing
1. Amniocentesis Chorionic villus sampling (CVS) Ultrasound Fetoscopy