The Chi Square-Test for Independence

Any Phenotypic Pattern

 

We have already discussed the 2 X 2 Contingency Table.  The 2 x 2 table and its associated formula only works  for two autosomal genes with complete dominance. However, it is possible to extend the Chi Square Test for Independence to any type of dominance system. 

 

Chi Square Test of Independence

Consider the case where we have two loci A and B each with two alleles (A1;A2 and B1; B2 ). Locus A shows complete dominance and locus B  shows incomplete dominance.  The associate phenotypes can be represented as  A1;= & for the A locus and  as  B1,F1 and B2  for the B locus (the heterozygote B1B2 has the phenotype called F1).

Example:  Consider the following cross:

 
       
Parental A1A1B1B1 x A2A2B2B2
       
F1 A1A2B1B2   A1A2B1B2
       

In the F2 generation there are 3200 offspring divided among 6 phenotypes.

  F2 Phenotypes Obs Exp.*
  A1B1 750 600
  A1F1 1339 1200
  A1B2 311 600
  A2B1 40 200
  A2F1 268 400
  A2B2 492 200
 

Total

3200  

*expected assuming no problems with segregation and independent assortment

 

The observed results show a large deviation from the expected values (c2 = 906, 5df  p >.01).  Further work shows that there is not a problem with segregation at either the A or B loci.

 The 3 x 2 general table is given below for the observed values.

A Locus  

B locus

 
Phenotypes B1 F1 B2

Row Totals
A1

 a

b

c

a+b+c
A2

 d

e

f

d+e+f
 Column Totals

 a+d

b+e

c+f

 a+b+c+d+e+f=N

Now we need to calculate the expected values for each cell in the table. This is done by multiplying the row totals times the column totals divided by the grand total (N).  For example, the A1B1 phenotype would have an expected value of  (a+b+c)(a+d)/N.

For the example above the observed values are:

A Locus  

B locus

 
Phenotypes B1 F1 B2
Row Totals
A1
 750

1339

311
2400
A2
 40
268
492
800
 Column Totals
 790
1607
803
3200

The row totals divided by N are the phenotypic array for the A locus. Similarly, the column totals divided by N are the phenotypic array for the B locus.         

For the example above the expected values are:

A Locus  

B locus

 
Phenotypes B1 F1 B2
Row Totals
A1
600

1200

600
2400
A2
 200
400
200
800
 Column Totals 800 1600 800 3200

 

Once the expected values have been calculated we can use the basic formula for a c2 test for goodness of fit.

Sc2 S(obs-exp)2/exp

c2 =  906; Degrees of Freedom = (c - 1)(r - 1) = 2(1) = 2 ; p > .01.  Reject hypothesis that A and B loci are independent.

Similar tables can be constructed for two loci where both loci show incomplete dominance or if there is lethality or penetrance. In genetics, the Chi Square Test of Independence is used to determine whether  the phenotypic array for two loci considered jointly can be predicted by multiplying the phenotypic array of locus A by the phenotypic array of locus B. Linkage or epistasis can disrupt that relationship

Quick Links F2 Cross

1 Basic F2 cross - autosomal genes
2 Basic  F2 cross- X-linked gene
       Expected Phenotypes of F2 Cross - Single Autosomal Traits
        Expected Phenotypes of F2 Cross - X-linked gene
4 F2 cross - two unlinked autosomal genes
5 F2 cross - one autosomal - one X-linked gene
6 Linkage - Coupling and Repulsion
7  F2 cross - two linked autosomal genes -coupling
8  F2 cross - two linked autosomal genes - repulsion
9 Measuring the recombination rate from F2 data
          Recombination from F2 data - Table of Values
   
10 Basic  F2 cross- Z-linked gene (inactive)
12 Expected Phenotypes of F2 Cross - Z-linked gene (inactive)
13 F2 cross - one autosomal - one Z-linked gene (inactive)
 

Also See

  Detection of Linkage - Basic Info - Two Autosomal Traits - Complete Dominance
  Detection of Linkage -  More complex examples
  Detection of Linkage -  One More Example
  Detection of Linkage -  Two Autosomal Traits - Heterozygote has Unique Phenotype
   
  Home page
  Detailed List for Mendelian Genetics