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These are the important key points of Lecture Notes of Cell Biology are: Inbreeding, Consanguineous Matings, Autosomal Recessive Traits, Dominant Traits, Inbreeding Coefficient, Homozygous By Descent, Simplest Case, Little Practical Consequence, Appreciable Frequency, Rare Recessive Allele
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Lecture 27
Effects of Inbreeding:
Today we will examine how inbreeding between close relatives (also known as
consanguineous matings) influences the appearance of autosomal recessive traits.
Note that inbreeding will not make a difference for dominant traits because they need
only be inherited from one parent or for X-linked traits since they are inherited from
the mother.
Consider an extreme case of inbreeding namely a brother-sister mating.
A useful concept is the Inbreeding Coefficient = F which is defined as the likelihood of
homozygosity by descent at a given locus.
If we consider a locus with different alleles in each grandparent: A1 , A2 , A3 , A4 ,
F is the probability that the grandchild will be either
p(
p(
p(
p(
p(homozygous by descent) = 4
1 / (^4)
A bother-sister mating is the simplest case but is of little practical consequence in human
population genetics since all cultures have strong taboos against this type of
consanguineous mating and the frequency is extremely low.
However, 1
st cousin marriages do happen at an appreciable frequency. Let's calculate F
for offspring of 1
st cousins.
p(
p(
p(
p(
p(homozygous by descent) = 4
F for 1
st cousins =
Consider a rare recessive allele a at frequency f( a ) = q = 10
For random mating the frequency of homozygotes is f(
a /a ) = q
Imagine a hypothetical situation where only 1
st cousins mated. In that case the
frequency of homozygotes would be:
f(
a /a ) = p (homozygous by descent) x p(allele is a )
= F x q
f(
a /a ) =
/16 x q = 6.3 x 10
Thus there would be 600 times more affected individuals for 1
st cousin matings than for
random mating. But 1
st cousin marriages are rare and their actual impact on the
frequency of homozygotes in a population will depend on the frequency of 1
st cousin
marriages.
unrelated parents 1st cousins difference
Observed 0.04 0.11 0.
frequency of still-
birth or neonatal
death
Average number of recessive lethals in both grandparents =
Thus each grandparent has an average of 2.2 recessive lethal alleles.