LECTURE 11

QUANTITATIVE
GENETICS
AT THE END OF THIS LECTURE STUDENTS SHOULD
BE ABLE TO EXPLAIN THE DIFFERENCES BETWEEN
QUANTITATIVE AND QUALITATIVE TRAITS, TYPES OF
QUANTITATIVE TRAITS, SOME IMPORTANT
STATISTICAL VALUES, COMPONENTS OF
VARIANCES, HERITABILITY AND QTLs.
QUALITATIVE, OR DISCONTINUOUS, CHARACTERISTICS POSSESS
ONLY A FEW DISTINCT PHENOTYPES.

HOWEVER, MANY CHARACTERISTICS VARY CONTINUOUSLY ALONG

A SCALE OF MEASUREMENT WITH MANY OVERLAPPING
PHENOTYPES.
THEY ARE REFERRED TO AS CONTINUOUS CHARACTERISTICS; THEY
ARE ALSO CALLED QUANTITATIVE CHARACTERISTICS BECAUSE ANY
INDIVIDUAL’S PHENOTYPE MUST BE DESCRIBED WITH A
QUANTITATIVE MEASUREMENT.

QUANTITATIVE CHARACTERISTICS MIGHT INCLUDE HEIGHT, WEIGHT,

AND BLOOD PRESSURE IN HUMANS, GROWTH RATE IN MICE, SEED
WEIGHT IN PLANTS, AND MILK PRODUCTION IN CATTLE.
QUANTITATIVE CHARACTERISTICS ARISE FROM TWO PHENOMENA:

FIRST, MANY ARE POLYGENIC: THEY ARE INFLUENCED BY GENES AT

MANY LOCI. IF MANY LOCI TAKE PART, MANY GENOTYPES ARE
POSSIBLE, EACH PRODUCING A SLIGHTLY DIFFERENT PHENOTYPE.

SECOND, QUANTITATIVE CHARACTERISTICS OFTEN ARISE WHEN

ENVIRONMENTAL FACTORS AFFECT THE PHENOTYPE BECAUSE
ENVIRONMENTAL DIFFERENCES RESULT IN A SINGLE GENOTYPE
PRODUCING A RANGE OF PHENOTYPES.

MOST CONTINUOUSLY VARYING CHARACTERISTICS ARE BOTH

POLYGENIC AND INFLUENCED BY ENVIRONMENTAL FACTORS, AND
THESE CHARACTERISTICS ARE SAID TO BE MULTIFACTORIAL.
FOR MANY DISCONTINUOUS
CHARACTERISTICS, THE RELATION
BETWEEN GENOTYPE AND
PHENOTYPE IS STRAIGHTFORWARD
/SIMPLE.

FOR QUANTITATIVE CHARACTERISTICS,

THE RELATION BETWEEN GENOTYPE
AND PHENOTYPE IS OFTEN MORE
COMPLEX. IF THE CHARACTERISTIC IS
POLYGENIC, MANY DIFFERENT
GENOTYPES ARE POSSIBLE, SEVERAL
OF WHICH MAY PRODUCE THE SAME
PHENOTYPE
TYPES OF QUANTITATIVE CHARACTERSISTICS:
1. CONTINUOUS CHARACTERISTICS
THEORETICALLY ASSUME ANY VALUE BETWEEN TWO EXTREMES,
e.g. HUMAN HEIGHT
2. MERISTIC CHARACTERISTICS
NOT CONTINUOUS BUT CONSIDERED QUANTITATIVE BECAUSE
THEY ARE DETERMINED BY MULTIPLE GENETIC AND
ENVIRONMENTAL FACTORS, e.g. A FEMALE MOUSE MAY HAVE 4,
5, OR 6 PUPS BUT NOT 4.13 PUPS
3. THRESHOLD CHARACTERISTICS
SIMPLY PRESENT OR ABSENT, e.g. THE PRESENCE OF SOME
DISEASES
BECAUSE QUANTITATIVE CHARACTERISTICS ARE DESCRIBED BY A
MEASUREMENT AND ARE INFLUENCED BY MULTIPLE FACTORS,
THEIR INHERITANCE MUST BE ANALYZED STATISTICALLY.

PHENOTYPIC VARIATION IN A GROUP CAN BE CONVENIENTLY

REPRESENTED BY A FREQUENCY DISTRIBUTION, WHICH IS A GRAPH
OF THE FREQUENCIES (NUMBERS OR PROPORTIONS) OF THE
DIFFERENT PHENOTYPES.
MANY QUANTITATIVE CHARACTERISTICS EXHIBIT A SYMMETRICAL
(BELL-SHAPED) CURVE CALLED A NORMAL DISTRIBUTION.

NORMAL DISTRIBUTIONS ARISE WHEN A LARGE NUMBER OF

INDEPENDENT FACTORS CONTRIBUTE TO A MEASUREMENT, AS IS
OFTEN THE CASE IN QUANTITATIVE CHARACTERISTICS.

TWO OTHER COMMON TYPES OF DISTRIBUTIONS ARE SKEWED AND

BIMODAL.
BIOLOGISTS FREQUENTLY NEED TO DESCRIBE THE
DISTRIBUTION OF PHENOTYPES EXHIBITED BY A GROUP
OF INDIVIDUALS.

SCIENTISTS ARE CONSTANTLY CONFRONTED WITH THIS

PROBLEM: THE GROUP OF INTEREST, CALLED THE
POPULATION, IS TOO LARGE FOR A COMPLETE CENSUS.

ONE SOLUTION IS TO MEASURE A SMALLER COLLECTION

OF INDIVIDUALS, CALLED A SAMPLE, AND USE
MEASUREMENTS MADE ON THE SAMPLE TO DESCRIBE
THE POPULATION.
TO PROVIDE AN ACCURATE DESCRIPTION OF THE
POPULATION, A GOOD SAMPLE MUST HAVE SEVERAL
CHARACTERISTICS.
1. IT MUST BE REPRESENTATIVE OF THE WHOLE
POPULATION.
2. THE SAMPLE MUST BE LARGE ENOUGH THAT CHANCE
DIFFERENCES BETWEEN INDIVIDUALS IN THE SAMPLE
AND THE OVERALL POPULATION DO NOT DISTORT THE
ESTIMATE OF THE POPULATION MEASUREMENTS.
THE MEAN, ALSO CALLED THE AVERAGE, PROVIDES INFORMATION
ABOUT THE CENTER OF THE DISTRIBUTION.

THE MEAN PROVIDES INFORMATION ABOUT THE CENTER OF

A DISTRIBUTION. BOTH DISTRIBUTIONS OF HEIGHTS OF 10-YEAR-
OLD AND 18-YEAR OLD BOYS ARE NORMAL, BUT THEY HAVE
DIFFERENT LOCATIONS ALONG A CONTINUUM OF HEIGHT, WHICH
MAKES THEIR MEANS DIFFERENT.
A STATISTIC THAT PROVIDES KEY INFORMATION ABOUT A
DISTRIBUTION IS THE VARIANCE, WHICH INDICATES THE
VARIABILITY OF A GROUP OF MEASUREMENTS, OR HOW SPREAD
OUT THE DISTRIBUTION IS.

DISTRIBUTIONS MAY
HAVE THE SAME MEAN
BUT DIFFERENT
VARIANCES.
ANOTHER STATISTIC THAT IS CLOSELY RELATED TO THE VARIANCE
IS THE STANDARD DEVIATION (s), WHICH IS DEFINED AS THE
SQUARE ROOT OF THE VARIANCE:

WHEREAS THE VARIANCE IS EXPRESSED IN UNITS SQUARED, THE

STANDARD DEVIATION IS IN THE SAME UNITS AS THE ORIGINAL
MEASUREMENTS; SO THE STANDARD DEVIATION IS OFTEN
PREFERRED FOR DESCRIBING THE VARIABILITY OF A
MEASUREMENT.

A NORMAL DISTRIBUTION IS SYMMETRICAL; SO THE MEAN

AND STANDARD DEVIATION ARE SUFFICIENT TO DESCRIBE ITS
SHAPE.
THE PROPORTIONS OF A NORMAL DISTRIBUTION OCCUPIED BY
PLUS OR MINUS ONE, TWO, AND THREE STANDARD DEVIATIONS
FROM THE MEAN.
THE MEAN AND THE VARIANCE CAN BE USED TO DESCRIBE AN
INDIVIDUAL CHARACTERISTIC, BUT GENETICISTS ARE FREQUENTLY
INTERESTED IN MORE THAN ONE CHARACTERISTIC.

OFTEN, TWO OR MORE CHARACTERISTICS VARY TOGETHER.

FOR INSTANCE, BOTH THE NUMBER AND THE WEIGHT OF EGGS
PRODUCED BY HENS ARE IMPORTANT TO THE POULTRY INDUSTRY.
THESE TWO CHARACTERISTICS ARE NOT INDEPENDENT OF EACH
OTHER.
THIS KIND OF RELATION BETWEEN TWO CHARACTERISTICS IS
CALLED A CORRELATION.

CORRELATIONS BETWEEN CHARACTERISTICS ARE MEASURED BY A

CORRELATION COEFFICIENT (DESIGNATED r), WHICH MEASURES
THE STRENGTH OF THEIR ASSOCIATION.
THE CORRELATION COEFFICIENT DESCRIBES THE RELATION
BETWEEN TWO OR MORE VARIABLES
A CORRELATION COEFFICIENT CAN BE COMPUTED FOR A SINGLE
VARIABLE MEASURED FOR PAIRS OF INDIVIDUALS.
CORRELATION PROVIDES INFORMATION ONLY ABOUT THE
STRENGTH AND DIRECTION OF ASSOCIATION BETWEEN VARIABLES.
HOWEVER, WE OFTEN WANT TO KNOW MORE THAN JUST WHETHER
TWO VARIABLES ARE ASSOCIATED; WE WANT TO BE ABLE TO
PREDICT THE VALUE OF ONE VARIABLE, GIVEN A VALUE OF THE
OTHER.

THIS TYPE OF STATISTICAL PREDICTION IS CALLED REGRESSION.

THIS TECHNIQUE PLAYS AN IMPORTANT ROLE IN QUANTITATIVE
GENETICS BECAUSE IT ALLOWS US TO PREDICT THE
CHARACTERISTICS OF OFFSPRING FROM A GIVEN MATING, EVEN
WITHOUT KNOWLEDGE OF THE GENOTYPES THAT ENCODE THE
CHARACTERISTICS.
A REGRESSION LINE DEFINES THE RELATION
BETWEEN TWO VARIABLES
THE REGRESSION LINE DEFINES THE RELATION BETWEEN
THE X AND Y VARIABLES AND CAN BE REPRESENTED BY

THE VARIABLE a IS THE y INTERCEPT OF THE LINE, WHICH

IS THE EXPECTED VALUE OF y WHEN x IS 0. VARIABLE b IS
THE SLOPE OF THE REGRESSION LINE, ALSO CALLED THE
REGRESSION COEFFICIENT.
THE REGRESSION COEFFICIENT, b, REPRESENTS THE
CHANGE IN Y PER UNIT CHANGE IN X
SOLUTION??? PLEASE TAKE A LOOK AT YOUR E-BOOK.
EDWARD EAST CARRIED OUT ONE EARLY STATISTICAL STUDY OF
POLYGENIC INHERITANCE ON THE LENGTH OF FLOWERS IN
TOBACCO (Nicotiana longiflora).

HE OBTAINED TWO INBRED VARIETIES OF TOBACCO THAT DIFFERED

IN FLOWER LENGTH: ONE VARIETY HAD A MEAN FLOWER LENGTH
OF 40.5 mm, AND THE OTHER HAD A MEAN FLOWER LENGTH OF
93.3 mm.

WHEN EAST CROSSED THE TWO STRAINS, HE FOUND THAT FLOWER

LENGTH IN THE F1 WAS ABOUT HALFWAY BETWEEN THAT IN THE
TWO PARENTS AS WOULD BE EXPECTED IF THE GENES
DETERMINING THE DIFFERENCES IN THE TWO STRAINS WERE
ADDITIVE IN THEIR EFFECTS.

EAST THEN INTERBRED THE F1 TO PRODUCE F2 PROGENY. THE

MEAN FLOWER LENGTH OF THE F2 WAS SIMILAR TO THAT OF THE F1,
BUT THE VARIANCE OF THE F2 WAS MUCH GREATER.
IN ADDITION TO BEING POLYGENIC, QUANTITATIVE
CHARACTERISTICS ARE FREQUENTLY INFLUENCED BY
ENVIRONMENTAL FACTORS.

KNOWING HOW MUCH OF THE VARIATION IN A QUANTITATIVE

CHARACTERISTIC IS DUE TO GENETIC DIFFERENCES AND HOW
MUCH IS DUE TO ENVIRONMENTAL DIFFERENCES IS OFTEN
USEFUL.

THE PROPORTION OF THE TOTAL PHENOTYPIC VARIATION THAT

IS DUE TO GENETIC DIFFERENCES IS KNOWN AS THE
HERITABILITY.

TO DETERMINE THE EXTENT OF GENETIC AND ENVIRONMENTAL

INFLUENCES ON VARIATION IN A CHARACTERISTIC, PHENOTYPIC
VARIATION IN THE CHARACTERISTIC MUST BE PARTITIONED INTO
COMPONENTS ATTRIBUTABLE TO DIFFERENT FACTORS.
THE TOTAL PHENOTYPIC VARIANCE (VP) CAN BE
APPORTIONED INTO THREE COMPONENTS:

VP = TOTAL OR PHENOTYPIC VARIANCE

VG = GENETIC VARIANCE
VE = ENVIRONMENTAL VARIANCE
VGE = GENETIC-ENVIRONMENTAL INTERACTION
VARIANCE
GENETIC-ENVIRONMENTAL INTERACTION
GENETIC VARIANCE CAN BE FURTHER SUBDIVIDED INTO
COMPONENTS CONSISTING OF DIFFERENT TYPES OF GENETIC
EFFECTS.
1. ADDITIVE GENETIC VARIANCE (VA) COMPRISES THE ADDITIVE
EFFECTS OF GENES ON THE PHENOTYPE, WHICH CAN BE
SUMMED TO DETERMINE THE OVERALL EFFECT ON THE
PHENOTYPE.
2. DOMINANCE GENETIC VARIANCE (VD) WHEN SOME GENES HAVE
A DOMINANCE COMPONENT. IN THIS CASE, THE ALLELES AT A
LOCUS ARE NOT ADDITIVE; RATHER, THE EFFECT OF AN ALLELE
DEPENDS ON THE IDENTITY OF THE OTHER ALLELE AT THAT
LOCUS.
3. GENIC INTERACTION VARIANCE (VI) WHEN GENES AT DIFFERENT
LOCI INTERACT IN THE SAME WAY THAT ALLELES AT THE SAME
LOCUS INTERACT. WHEN THIS GENIC INTERACTION TAKES PLACE,
THE EFFECTS OF THE GENES ARE NOT ADDITIVE.

THUS,
TWO TYPES OF HERITABITY

BROAD-SENSE HERITABILITY (H2) REPRESENTS THE PROPORTION OF

PHENOTYPIC VARIANCE THAT IS DUE TO GENETIC VARIANCE AND IS
CALCULATED BY DIVIDING THE GENETIC VARIANCE BY THE PHENOTYPIC
VARIANCE:

NARROW-SENSE HERITABILITY (h2) IS EQUAL TO THE ADDITIVE GENETIC

VARIANCE DIVIDED BY THE PHENOTYPIC VARIANCE:

OFTEN, WE ARE MORE INTERESTED IN NARROW-SENSE HERITABILITY

BECAUSE THE ADDITIVE GENETIC VARIANCE PRIMARILY DETERMINES THE
RESEMBLANCE BETWEEN PARENTS AND OFFSPRING.
THE NARROW-SENSE HERITABILITY, h2, EQUALS THE REGRESSION COEFFICIENT,
b, IN A REGRESSION OF THE MEAN PHENOTYPE OF THE OFFSPRING AGAINST THE
MEAN PHENOTYPE OF THE PARENTS.
(a) THERE IS NO RELATION BETWEEN THE PARENTAL PHENOTYPE AND THE
OFFSPRING PHENOTYPE.
(b) THE OFFSPRING PHENOTYPE IS THE SAME AS THE PARENTAL PHENOTYPES.
(c) BOTH GENES AND ENVIRONMENT CONTRIBUTE TO THE DIFFERENCES IN
PHENOTYPE.
THE HERITABILITY OF
SHELL BREADTH IN
SNAILS CAN BE
DETERMINED BY
REGRESSION OF THE
PHENOTYPE OF
OFFSPRING AGAINST
THE MEAN PHENOTYPE
OF THE PARENTS.
THE REGRESSION
COEFFICIENT, WHICH
EQUALS THE HERITABILITY,
IS 0.70.
PREDICTING THE RESPONSE TO SELECTION

THE EXTENT TO WHICH A CHARACTERISTIC SUBJECTED TO SELECTION

CHANGES IN ONE GENERATION IS TERMED THE RESPONSE TO
SELECTION (R).

THE RESPONSE TO SELECTION DEPENDS ON THE PHENOTYPIC

DIFFERENCE OF THE INDIVIDUALS THAT ARE SELECTED AS PARENTS;
THIS PHENOTYPIC DIFFERENCE IS MEASURED BY THE SELECTION
DIFFERENTIAL (S), DEFINED AS THE DIFFERENCE BETWEEN THE
MEAN PHENOTYPE OF THE SELECTED PARENTS AND THE MEAN
PHENOTYPE OF THE ORIGINAL POPULATION.

OR
EXAMPLE OF CALCULATING NARROW-SENSE HERITABILITY BASED
ON RESPONSE TO SELECTION

SUPPOSE THAT THE AVERAGE COW IN A DAIRY HERD PRODUCES

80 LITERS OF MILK PER WEEK. A FARMER SELECTS FOR
INCREASED MILK PRODUCTION BY BREEDING THE HIGHEST MILK
PRODUCERS, AND THE PROGENY OF THESE SELECTED COWS
PRODUCE 100 LITERS OF MILK PER WEEK ON AVERAGE.
THEN, R = 100 L/W – 80 L/W = 20 L/W.

IF THE FARMER BREEDS COWS WITH AN AVERAGE MILK

PRODUCTION OF 120 LITERS PER WEEK, THEN S = 120L/W −
80L/W = 40 L/W.

h2 = 20L/W : 40L/W = 0.5.

IN A LONG-TERM RESPONSE-TO-SELECTION EXPERIMENT,
SELECTION FOR OIL CONTENT IN CORN INCREASED OIL CONTENT IN
ONE LINE TO ABOUT 20%, WHEREAS IT ALMOST ELIMINATED IT IN
ANOTHER LINE.
ARTIFICIAL SELECTION HAS PRODUCED THE TREMENDOUS
DIVERSITY OF SHAPE, SIZE, COLOR, AND BEHAVIOR SEEN TODAY
AMONG BREEDS OF DOMESTIC DOGS.
HERITABILITY PROVIDES INFORMATION ONLY ABOUT THE
DEGREE TO WHICH VARIATION IN A CHARACTERISTIC IS
GENETICALLY DETERMINED. THERE IS NO UNIVERSAL
HERITABILITY FOR A CHARACTERISTIC. HERITABILITY IS
SPECIFIC FOR A GIVEN POPULATION IN A SPECIFIC
ENVIRONMENT. ENVIRONMENTAL FACTORS CAN POTENTIALLY
AFFECT CHARACTERISTICS WITH HIGH HERITABILITY, AND
HERITABILITY SAYS NOTHING ABOUT THE NATURE OF
POPULATION DIFFERENCES IN A CHARACTERISTIC.
QUANTITATIVE CHARACTERISTICS CAN BE USED BOTH TO MAKE
PREDICTIONS ABOUT THE AVERAGE PHENOTYPE EXPECTED IN
OFFSPRING AND TO ESTIMATE THE OVERALL CONTRIBUTION OF
GENES TO VARIATION IN THE CHARACTERISTIC. THESE METHODS
DO
NOT, HOWEVER, ALLOW US TO IDENTIFY AND DETERMINE THE
INFLUENCE OF INDIVIDUAL GENES THAT AFFECT QUANTITATIVE
CHARACTERISTICS.

CHROMOSOME REGIONS WITH GENES THAT CONTROL POLYGENIC

CHARACTERISTICS ARE REFERRED TO AS QUANTITATIVE TRAIT LOCI
(QTL).

THE PAST INABILITY TO IDENTIFY QTLS AND MEASURE THEIR

INDIVIDUAL EFFECTS SEVERELY LIMITED THE APPLICATION OF
QUANTITATIVE GENETIC METHODS.
IN RECENT YEARS, NUMEROUS GENETIC MARKERS HAVE BEEN IDENTIFIED
AND MAPPED WITH THE USE OF MOLECULAR TECHNIQUES, MAKING IT
POSSIBLE TO IDENTIFY QTLs BY LINKAGE ANALYSIS.

THE UNDERLYING IDEA IS SIMPLE: IF THE INHERITANCE OF A GENETIC

MARKER IS ASSOCIATED CONSISTENTLY WITH THE INHERITANCE OF A
PARTICULAR CHARACTERISTIC (SUCH AS INCREASED HEIGHT), THEN THAT
MARKER MUST BE LINKED TO A QTL THAT AFFECTS HEIGHT.

THE KEY IS TO HAVE ENOUGH GENETIC MARKERS SO THAT QTLS CAN BE

DETECTED THROUGHOUT THE GENOME.

WITH THE INTRODUCTION OF RESTRICTION FRAGMENT LENGTH

POLYMORPHISMS, MICROSATELLITE VARIATIONS, AND SINGLE-
NUCLEOTIDE POLYMORPHISMS (SEE LECTURE 12), VARIABLE MARKERS
ARE NOW AVAILABLE FOR MAPPING QTLs IN A NUMBER OF DIFFERENT
ORGANISMS.
THE AVAILABILITY OF NUMEROUS GENETIC MARKERS REVEALED BY
MOLECULAR METHODS MAKES IT POSSIBLE TO MAP CHROMOSOME
SEGMENTS CONTAINING GENES THAT CONTRIBUTE TO POLYGENIC
CHARACTERISTICS.

GENOMEWIDE ASSOCIATION STUDIES LOCATE GENES THAT AFFECT

QUANTITATIVE TRAITS BY DETECTING ASSOCIATIONS BETWEEN
GENETIC MARKERS AND A TRAIT WITHIN A POPULATION OF
INDIVIDUALS.
 SEE YOU NEXT WEEK
ON LECTURE 12

POPULATION GENETICS