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Genetics Similarity and variation

The scientific study of heredity began More than a century ago with the Work of an Austrian monk named Gregor Mendel.

The passing of traits from parents To offspring is called heredity.

Mendels initial experiments were Monohybrid crosses. A monohybrid cross is a cross that In ol es ! pair of contrasting traits. "or example# crossing a purple flower With a white flower plant to see What happens.

Mendels pea experiments focused $n % traits that could be &asily iewed and studied. "lower color# seed color# 'eed shape# pod color# pod shape# "lower position# and plant height.

Mendel carried out his experiments In ( steps) !* Mendel allowed each ariety of Garden pea to self+pollinate for 'e eral generations. This method ensured that each ,ariety was true+breeding for a -articular trait. All the offspring Would display only ! form of a -articular trait. These true breeding plants ser ed As the parental generation in Mendels &xperiments. The parental generation .6

/* Mendel then cross pollinated / Generation plants that had contrasting "orms of a trait. Mendel called the offspring of the generation the !st filial generation# $r the "! generation. 1e then examined each "! plant And recorded the number of "! -lants expressing each trait. (* "inally Mendel allowed the "! Generation to self pollinate. 1e 2alled the offspring of the "! Generation the /nd filial generation

Mendels results did not support the 0lending hypothesis. Mendel correctly concluded that each -ea has / separate 3heritable factors4 "or each trait# ! from each parent. Mendel came up with 5 hypotheses That were directly based on The results of his experiments.

!* "or each inherited trait# an Indi idual has / copies of the gene6 $ne from each parent. /* There are alternati e ersions $f genes. Today the different ,ersions of a gene are called Alleles. &ach allele can be passed $n when the indi idual reproduces.



together, one of them may be completely expressed, while the other may have no observable effect on the organisms appearance. Mendel described the expressed form of the trait as dominant. The trait that was not expressed when the dominant form of the trait was present was described as recessive.

3) When two different alleles occur

5* When gametes are formed# the alleles for each gene in an indi idual separate independently of one another. Thus# gametes carry only one allele for each inherited trait. When gametes unite during fertili7ation# each gamete contributes one allele.


1omo7ygous - If the two alleles of a particular gene present in an individual are the same. 1etero7ygous - If the alleles of a particular gene present in an individual are different. Dominant alleles are indicated by writing the first letter of the trait as a capital letter. Recessive alleles are also indicated by writing the first letter of the dominant trait, but the letter is lowercase. In hetero ygous individuals, only the dominant allele is e!pressed" the recessive allele is present but une!pressed. Genotype -#he set of alleles that an individual 15

The 8aws of 1eredity

Mendels !st 8aw + The 8aw of 'egregation
#he first law, the law of segregation# states that the two alleles for a trait segregate .separate* when gametes are formed. #he first law of heredity describes the behavior of chromosomes during meiosis %t this time, homologous chromosomes and then chromatids are separated.

Mendels /nd 8aw 9 8aw of Independent Assortment

&endel found that for the traits he studied, the inheritance of one trait did not influence the inheritance of any other trait. #he law of independent assortment states that the alleles of different genes separate independently of one another during gamete formation.

$ne simple way of predicting the &xpressed results .not necessarily The actual results* of the genotypes $r phenotypes in a cross is to :se a -unnett s;uare.

% -unnett s;uare is a diagram that predicts the

outcome of a genetic cross by considering all possible combinations of gametes in the cross. #he possible gametes that one parent can produce are written along the top of the s'uare. #he possible gametes that the other parent can produce are written along the left side of the s'uare. (ach bo! inside the s'uare is filled in with two letters obtained by combining the allele along the top of the bo! with the allele along the side of the bo!. $unnett s'uares can be used to predict the outcome of a monohybrid cross )a cross that considers one pair of contrasting traits between two individuals*. $unnett s'uares allow direct and simple predictions to be made about the outcomes of genetic crosses.



+ariations on &endel,s -aws

.. Incomplete Dominance /. 0odominance 1. &ultiple %lleles 2. $leiotropy 3. (pistasis 4. $olygenic Inheritance 5. (nvironmental (ffects


Red 2R2R

White 2W 2W

-arent generation


P Generation Red 2R2R White 2W 2W

Gametes 2R 2W

F1 Generation

Pink 2R2W




W /2 2

F2 Generation

Sperm /2 2R

/ 2 2W

/ 2 2R



/2 2W 2R2R

2R 2W

Allele IA IB

Carbohydrate A B

i none a! "he three alleles #or the AB$ blood gro%ps and their asso&iated &arbohydrates Genotype Red blood &ell appearan&e Phenotype blood gro%p! A

IAIA or IA i IBIB or IB i





b! Blood gro%p genotypes and phenotypes


Si&kle &ells

Breakdo'n o# red blood &ells

Cl%mping o# &ells and &logging o# small blood (essels


A&&%m%lation o# si&kled &ells in spleen

Physi&al 'eakness


)eart #ail%re

Pain and #e(er

Brain damage

*amage to other organs

Spleen damage

+mpaired mental #%n&tion


Pne%monia and other in#e&tions


,idney #ail%re



-olygenic Inheritance


&n ironmental &ffects


Scientists cannot control matings in humans So, they must gather as much information about a family history #hey organi e it onto a family tree called a pedigree



Inheritance of #raits
Geneticists often prepare a pedigree# a family history that shows how a trait is inherited o er se eral generations. $edigrees are particularly helpful if the trait is a genetic disorder and the family members want to 6now if they are carriers or if their children might get the disorder. Scientists can determine several pieces of genetic information from a pedigree


%utosomal or Se!--in6ed7 If a trait is autosomal, it will appear in both se!es e'ually. If a trait is se!-lin6ed, it is usually seen only in males. % sex+linked trait is a trait whose allele is located on the < chromosome. Dominant or Recessive7 If the trait is autosomal dominant, every individual with the trait will have a parent with the trait. If the trait is recessive, an individual with the trait can have one, two, or neither parent e!hibit the trait. Scientists can determine several pieces of genetic information from a pedigree8 9etero ygous or 9omo ygous7 If individuals with autosomal traits are homo ygous dominant or hetero ygous, their phenotype will show the dominant characteristic. If individuals are homo ygous recessive, their phenotype will show the recessive characteristic.


2omplex patterns of heredity

Most traits are not controlled by 'imple dominant+recessi e alleles.

2haracters influenced by se eral genes

:hen several genes influence a trait, the trait is said to be a polygenic trait. #he genes for a polygenic trait may be scattered along the same chromosome or located on different chromosomes. ;amiliar e!amples of polygenic traits in humans include eye color, height, weight, and hair and s6in color.


Intermediate characters
In some organisms, however, an individual displays a trait that is intermediate between the two parents, a condition 6nown as incomplete dominance ;or e!ample, when a snapdragon with red flowers is crossed with a snapdragon with white flowers, a snapdragon with pin6 flowers is produced.



0haracters controlled by genes with 1 or more alleles

Genes with three or more alleles are said to have multiple alleles (ven for traits controlled by genes with multiple alleles, an individual can have only two of the possible alleles for that gene. 0haracters with two forms displayed at the same time8 ;or some traits, two dominant alleles are e!pressed at the same time. In this case, both forms of the trait are displayed, a phenomenon called codominance. 0odominance is different from incomplete dominance because both traits are displayed.


0haracters influenced by environment

%n individual,s phenotype often depends on conditions in the environment <ecause identical twins have identical genes, they are often used to study environmental influences <ecause identical twins are genetically identical, any differences between them are attributed to environmental influences