blending theory of inheritance: parental traits are “mixed” in the offspring does not explain:...
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Blending Theory of Inheritance:
Parental traits are “mixed” in the offspring
Does NOT explain:• how population did not reach a uniform appearance
• how some inheritable traits skip a generation
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Mendel’s Particulate Theory:
Parents transmit discrete factors (genes) that remain separate from on generation to the next
• character• trait• true breeding
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Law of Segregation:Allele pairs segregate during meiosis and the paired condition is restored by the random fusion of gametes in fertilization
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Law of Segregation assumes:
• alleles (alternate forms of same gene)• an organism inherits two genes (one from each parent)• if two alleles differ, one is dominant and the other recessive• two genes for each allele segregate during gamete formation
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Pp x PpPurple flowers
Purple flowers
P
p
P p
PP
Pp
Pp
pp
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Genetics Vocabulary:
• homozygous• heterozygous• phenotype• genotype• test cross
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Inheritance as Probability:
Event is certain to occur = 1
Event is certain not to occur = 0
* Probabilities of all possible outcomes must equal 1.
* Random events are independent of one another
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Rule of Multiplication:Probability that independent events will occur simultaneously is the product of individual probabilities
Rule of Addition:Probability of an event that occur in two or more independent ways is the sum of the probabilities of the different ways
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Law of Independent Assortment:Each allele pair
segregated independently of gene pairs during gamete formation
Incomplete Dominance:The dominant phenotype is
not fully expressed in the hetero-zygote, resulting in an intermediate phenotype
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Codominance:There is full expression of both alleles on the heterozygotePleiotropy:Ability of a single gene to have multiple phenotypic effectsEpistasis:
Interaction between two non-allelic genes in which one modifies the genotypic expression of the other
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Polygenic Inheritance:
Mode of inheritance in which the additive effect of two or more genes determines a single phenotypic character
Multiple Alleles:
There are more than two alternative forms of the gene
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Norm of Reaction = range of phenotypic variability produced by a single genotype under various environmental conditions
Nature vs Nurture
Multifactorial Disorders: in-heritance of alleles at a single locus (both genetic and environmental)
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Human Pedigrees
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Recessively Inherited Disorders: a recessive gene that
causes a disorder
• Usually a recessive allele causes a disorder that codes for a mal-functional protein or no protein at all
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• cystic fibrosis
• tay sachs
• sickle cell anemia
Dominantly Inherited Disorders:• achondroplasia
* Lethal dominants are more rare than lethal recessives.
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Late Acting Lethal Dominants:• Huntington’s
disease* Can escape detection if it doesn’t appear until an advanced age
Consanguinity = genetic relation-ship resulting from shared ancestry* Higher probability of
inheriting same harmful alleles
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Risk Assesment:
• genetic counseling
• carrier recognition
• amniocentesis
• chorionic villi sampling
• ultrasound and fetoscopy
• newborn screening