chapter 11 mendelian genetics i genetics book
TRANSCRIPT
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Chapter 11Mendelian Genetics
Copyright 2010 Pearson Education Inc.
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Study of
Transmission how is a genetic trait inherited
Structure and function of genes process of
expressin a gene, mechanisms of mutations. Transmission genetics
Trait or character
Characteristics of an
individual Genotype
Phenotype
Visible
Invisible
Internal or
External
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1865 he reported
his studies on
Pisum sativum
Results notacknowledged
until late in the
19th century and
early in the 20thcentury
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Ease of growth
Bears flowers and fruit in the same year a
seed is planted
Produces a large number of seeds True-breeding or pure breeding
Contrasting traits
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Reciprocal crosses
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Principle of uniformity
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Alternative traits are determined by
particulate factors
Particulate factors are transmitted from
parents to offspring Particulate factors remain distinct after a
cross (they do not blend)
Genes
Alleles
distinct form of a gene They each specify a trait
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Particulate factors in true breeding are the
same whereas those in F1 are different
Homozygosity
HeterozygosityOne particulate factor masks the other
Dominance
S vs s
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Reginald Punnett
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All reciprocal
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Dominant or wild type alleles encode for a
normal product (protein)
Recessive alleles usually encodes for a
mutated gene which produces a partiallyfunctional or non-functional gene product
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The factors for different pairs of traits assort
independently of one another
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27:9:9:9:3:3:3:1
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Published his results in 1866
Botanists
Carl Correns maize and peas
Hugo de Vries
different plant species Erich von Tschermark peas
They set awareness about the laws of
inheritance and set forth research on gene
structure and function Zoologists
William Bateson fowl 1902
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Simple dominant trait
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Proband
affected individual throughwhom the pedigree is
discovered
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Result from loss-of-
function mutations
or modified function
of a gene product
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Most affected individuals have two normal
parents (heterozygotes)
Mating of two normal heterozygotes should
produce a 3:1 ratio (normal:recessive) The trait usually skips generations
Matings of two affected individuals bears
children with a 100% chance of expressing
the trait
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Result from gain-of-function mutations that result in
gene products with new functions
Gene FGFR3 fibroblast growth factor receptor
Individuals suffering the condition are heterozygotes
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Every affected person in the pedigree must
have at least one affected parent
The trait usually does not skip generations
On average a heterozygote will transmit themutant gene to half of his or her progeny