Genetics Chapter 3 Part 4

8. CHI SQUARE ANALYSIS EVALUATES THE INFLUENCE OF CHANCE ON GENETIC DATA

Mendels 3:1 monohybrid and 9:3:3:1 dihybrid ratios are hypothetical predictions based on these
assumptions:
o Each allele is dominant or recessive
o Segregation is operative
o Independent assortment occurs
o Fertilization is random
Independent Assortment and Random Fertilization
o Influenced by chance events
o Subject to random fluctuations
o Chance deviation
Illustrated by tossing a single coin; there is a probability of head and tail
Expected ratio of a toss coin is 1:1
If a coin is tossed 1000 times, 500 probability of head and 500 tail any fluctuation
from this hypothetical ratio (486 heads, 514 tails) is attributed to chance
Total number of tosses reduced, chance deviation increases
If the toss coin is only 4 times; it can be 4 heads and 4 tails since the chance deviation
increased
2 Points to consider in Chi-Square Analysis
o Outcomes of independent assortment and fertilization are subject to random fluctuations from
their predicted occurrences as a result of chance deviation
o As the sample size increases, the average deviation from the expected results decreases. A larger
sample size diminishes the impact of chance deviation on final outcome

Chi-Square Calculations and the Null Hypothesis

Null Hypothesis (Ho)

o The hypothesis when we assume that data will fit a given ratio
o Assumes that no real difference exists between measured values/ratio and predicted values/ratio
Apparent difference can be attributed to chance
o Evaluated using statistical analysis
o Can either be rejected or accepted
o If null is rejected, the observed deviation from the expected result is not attributed to chance alone
o If the null is accepted, observed deviations are attributed to chance
Chi-Square Analysis
o Simple statistical test to assess null hypothesis
 o Takes into account observed deviation on each component of an expected ratio as well as the
sample size and reduces them to a single numerical value
o Chi-square value used to estimate how frequently observed deviation can be expected to occur
strictly as a result of chance

Formula:

2
( )2
=

o o = observed value for a given category
o e = expected value
o = sum of the calculated values for each category
o =
o d is the deviation

o d2 is always positive

How to analyze chi-square analysis?

Determine the value of the degrees of freedom (df)

df = n-1
o n = number of different categories
o greater number of categories ; more deviation is expected as a result of chance
You can interpret the 2 value in terms of a corresponding probability value (p).
How to determine p value?

1. Locate 2 value on abscissa (horizontal/x-axis)

2. Draw vertical line from this point p to the angled line on the graph representing the appropriate df
3. Extend a horizontal line from this point to the left until it intersects the ordinate (the vertical or y-axis).
4. Estimate, by interpolation the corresponding p-value

Interpreting Probability Values

p value < 0.05

o means that the observed deviation in the set of results will be obtained by chance alone less than 5
percent of the time
o reject null hypothesis
p value > 0.05
o observed deviation will be obtained by chance alone 5 percent or more of the time
o accept null hypothesis

9. PEDIGREES REVEAL PATTERNS OF INHERITANCE OF HUMAN TRAITS

Family tree

- traditional way to study inheritance

Pedigree

- family tree
- indicates presence or absence of the trait

Pedigree Conventions

- circles represents females

- squares represents males
- parents connected by a single horizontal line
- Consanguineous
o Parents that are related (ex. 1st cousins)
o Connected by a double line
- Sibs
o Offspring are called sibs (short for siblings)
o Connected by a horizontal sibship line
o Placed from left to right according to birth order
and labeled with Arabic numerals
o Diamond symbol
Sex is unknown
o Shaded symbol
Phenotype expressed
o Unshaded symbol
Phenotype not expressed
o Heterozygous carriers
Single dot
o Diagonal lines stemming from a vertical line connected to the sibship line
Twins
o Diagonal lines linked by horizontal line
Identical (monozygotic) twins
o No connecting line in the horizontal line
Fraternal (or dizygotic) twins
o Proband
Individual whose phenotype first brought attention to the investigation and construction of
the pedigree
Indicated by an arrow connected to the designation p
Term applies to either a male or a female
Pedigree Analysis

- Method for studying the inheritance pattern of human traits over several generations
- Provides basis for predicting the mode of inheritance of characteristics and disorders in the absence of
extensive genetic crossing and large number of offspring

First Degree: Autosomal Recessive Trait

- Albinism
o Demonstrates autosomal recessive inheritance
- First pedigree demonstrates this
o Male parent of the first generation (I-1) is affected
o I-2; unaffected female parent, homozygous normal individual; none of the offspring show the
disorder
o Parents II-3 and II-4 heterozygous; approximately of the offspring is affected
o 2 of 6 offspring are albinos
o If confirmed that II-3 and II-4 are heterozygous then they should have dots inside their shapes
- If albinism is a dominant trait
o II-3 would express disorder in order to pass it to his offspring (III-3 and III-4) but he does not

**X-linked traits

- These traits are more prevalent in male offspring

- Never passed from affected fathers to son
 Second Pedigree (AUTOSOMAL DOMINANT TRAIT)

- Huntington disease
o Autosomal dominant allele
- All affected offspring will have a parent that also expresses the trait
- Also possible that none of the offspring will inherit the dominant allele
o If this is the case, the trait will cease to exist in future generations
- If gene is autosomal, doesnt matter if recessive or dominant
o Both males and females are equally affected
- Autosomal Dominant traits are rare
o Both parents cannot inherit a copy of a mutant gene from both parents
o Affected individuals are usually heterozygous for the dominant allele
- If mutation is dominant and a single copy is sufficient to produce a mutant phenotype, homozygotes are
likely to be even more severely affected, perhaps even failing to survive

Familial Hypercholesterolemia

- Dominant gene
- Heterozygotes
o Display a defect in their receptors for LDLs (Low
density lipoproteins)
o Have heart attacks during the fourth decade of
their life or before
o LDL levels about double that of a normal individual
o Too little cholesterol is taken up by cells from the
blood and elevated plasma levels of LDLs result

- Rare Homozygotes
o Lack LDL receptors
o LDL levels 10 times above normal range
o Likely to have a heart attack very early in life
o Even before age 5 and until the age of 20