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IV. Quantitative and Evolutionary Genetics
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18. Quantitative Inheritance
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The McGraw Hill Companies, 2001
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Quantitative Inheritance in Human Beings
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Table 18.7 Some Estimates of Heritabilities (HN)
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Trait Schizophrenia Diabetes Mellitus Early onset Late onset Asthma Cleft Lip Heart Disease, Congenital Peptic Ulcer Depression Stature* 0.35 0.70 0.80 0.76 0.35 0.37 0.45 1.00 Heritability 0.85
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* A heritability higher than one can be obtained when the correlation among relatives is higher than expected. This is usually the result of dominant alleles.
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The three basic ngerprint patterns. Ridges are counted where they intersect the line connecting a triradius with a loop or whorl center. (a) An arch; there is no triradius; the ridge count is zero. (b) A loop; thirteen ridges. (c) A whorl; there are two triradii and counts of seventeen and eight (the higher one is routinely used). (From Sarah B. Holt, Quantitative genetics of
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nger-print patterns, British Medical Bulletin, 17. Copyright 1961 Churchill
erationally, all that is left is the dominance variance, obtained by subtracting the additive from the total genetic variance. In addition, plant and animal breeders use sophisticated statistical techniques of covariance and variance analysis, techniques that are beyond our scope.
Livingstone Medical Journals, Edinburgh, Scotland. Reprinted by permission.)
Table 18.6 Correlations Between Relatives, and
Heritabilities, for Finger-Ridge Counts
Relationship Mother-child Father-child Siblings Dizygotic twins Monozygotic twins robs 0.48 0.49 0.50 0.49 0.95 rexp 0.50 0.50 0.50 0.50 1.00 HN 0.96 0.98 1.00 0.98 0.95
Q U A N T I TAT I V E I N H E R I TA N C E IN HUMAN BEINGS
As with most human studies, the measurement of heritability is limited by a lack of certain types of information. We cannot develop pure human lines, nor can we manipulate human beings into various kinds of environments or do selection experiments. However, certain kinds of information are available that allow some estimation of heritabilities.
Skin Color
Skin color is a quantitative human trait for which a simple analysis can be done on naturally occurring matings. Certain groups of people have black skin; other groups do not. Many of these groups breed true in the sense that skin colors stay the same generation after generation within a group; when groups intermarry and produce offspring, the F1 are intermediate in skin color. In turn, when F1 individuals intermarry and produce offspring, the skin color of the F2 is, on the average, about the same as the F1, but with more variation ( g. 18.16). The data are consistent with a model of four loci, each segregating two alleles. At each locus, one allele adds a measure of color, whereas the other adds none.
Source: From Sarah B. Holt, Quantitative genetics of nger-print patterns, British Medical Bulletin, 17. Copyright 1961 Churchill Livingstone Medical Journals, Edinburgh, Scotland. Reprinted by permission.
sured directly. If identical genotypes can be used, then the environmental component of variance can be determined. By correlation of various relatives, it is possible to directly measure heritability in the narrow sense. If heritability is known, and if the total phenotypic variance is known, then all that are left, assuming no interaction, are the dominance and epistatic components. In practice, the epistatic components are usually ignored. Thus, op-
Tamarin: Principles of Genetics, Seventh Edition
IV. Quantitative and Evolutionary Genetics
18. Quantitative Inheritance
The McGraw Hill Companies, 2001
Eighteen
Quantitative Inheritance
IQ and Other Traits
In human beings, twin studies have been helpful in estimating the heritability of quantitative traits. One way of looking at quantitative traits is by the concordance among twins. Concordance means that if one twin has the trait, the other does also. Discordance means one has the trait and the other does not. Table 18.8 shows some concordance values. High concordance of monozygotic as compared with dizygotic twins is another indicator of the heritability of a trait. Concordance values for measles susceptibility and handedness, which are similar for both monozygotic and dizygotic twins, demonstrate the environmental in uence on some traits. Some monozygotic twins (MZ) have been reared apart. The same is true for dizygotic twins (DZ) and nontwin siblings. IQ (intelligence quotient) is a measure of intelligence highly correlated among relatives, indicating a strong genetic component. In three studies of monozygotic twins reared apart, the average correlation in IQ was 0.72. In thirty-four studies of monozygotic twins reared together, the average correlation in IQ was 0.86; dizygotic twins reared together have an average correlation of 0.60 in IQ.Thus, it is clear that there is a genetic in uence on IQ. However, experts disagree strongly on the environmental role in shaping IQ and the exact meaning of IQ as a functional measure of intelligence (box 18.2). At present, twin studies are emerging from the shadow of a scandal involving a knighted British psychologist, Cyril Burt (1883 1971), who did classical twin research on the inheritance of IQ. Burt was posthumously accused of fraud, an accusation that was almost universally accepted and that cast doubt on all of his data and conclusions. More recently, new infor-
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