notes: ch 14, part 2 – extending mendelian genetics
TRANSCRIPT
NOTES: Ch 14, part 2 – Extending Mendelian
Genetics
The Spectrum of Dominance
● Complete dominance occurs when the phenotypes of the heterozygote and dominant homozygote are identical
● In codominance 2 dominant alleles affect the phenotype in separate, distinguishable ways
● Example: the human blood group MN
CODOMINANCE:
CODOMINANCE: ● inheritance
characterized by full expression of both alleles in the heterozygote
Example: in chickens, BB = black feathers, bb = white, Bb = “speckled” (both black and white feathers)
INCOMPLETE DOMINANCE: ● inheritance where one
allele is not completely dominant over the other, so the heterozygote has a phenotype that is intermediate between the phenotype of the 2 homozygotesEx: RR = red flowers, rr = white, Rr = pink
The Relationship Between Dominance and Phenotype
● Dominant and recessive alleles do not really “interact”
● they lead to synthesis of different proteins that produce a phenotype
Frequency of Dominant Alleles
● Dominant alleles are not necessarily more common in populations than recessive alleles
Multiple Alleles
● Most genes exist in populations in more than two allelic forms
● The ABO blood group in humans is determined by multiple alleles
Table 14.2
Polygenic Inheritance
● Many human characters vary in the population along a continuum and are called quantitative characters
POLYGENIC INHERITANCE:
● mode of inheritance in which the additive effect of 2 or more genes determines a single phenotypic characterExamples: height
hair color (4 gene pairs)eye color (2 gene pairs)skin color
AaBbCc AaBbCc
aabbcc Aabbcc AaBbcc AaBbCc AABbCc AABBCc AABBCC
20⁄64
15⁄64
6⁄64
1⁄64
Fra
ctio
n of
pro
geny
● Quantitative variation usually indicates polygenic inheritance
(An additive effect of 2 or more genes on a single phenotype)
PLEIOTROPY: ● the ability of a single gene to have
multiple phenotypic effects
Examples: sickle cell anemia
Siamese cats & tigers
EPISTASIS: ● interaction between 2 nonallelic genes in
which one modifies the phenotypic expression of the other
Example: gene for pigment deposition is epistatic to gene for melanin production in mice
● An example of epistasis:
BC bC Bc bc1⁄41⁄41⁄41⁄4
BC
bC
Bc
bc
1⁄4
1⁄4
1⁄4
1⁄4
BBCc BbCc BBcc Bbcc
Bbcc bbccbbCcBbCc
BbCC bbCC BbCc bbCc
BBCC BbCC BBCc BbCc
9⁄163⁄16
4⁄16
BbCc BbCc
Sperm
Eggs
Nature and Nurture: The Environmental Impact on Phenotype
● Another departure from simple Mendelian genetics arises when the phenotype for a character depends on environment as well as on genotype
● The norm of reaction is the phenotypic range of a particular genotype that is influenced by the environment
Figure 14.13
MULTIFACTORIAL INHERITANCE:
● A trait depends on many factors; a variety of genotypes as well as environmental influences (such as certain chemicals, medicines, or diet)
Examples of disorders that may be a result of multifactorial inheritance: diabetes, heart disease, neural tube defects, autism, Alzheimer disease, ALS, and many cancer syndromes
~Same genotype
~Phenotype depends on acidity of soil
~height controlled by several genes
~height influenced by amount of nourishment
Integrating a Mendelian View of Heredity and Variation
● An organism’s phenotype includes its physical appearance, internal anatomy, physiology, and behavior
● the phenotype reflects its overall genotype and unique environmental history
Inheritance Patterns for Genetic Diseases in Humans
Pedigree Analysis● A pedigree is a family tree that describes
the interrelationships of parents and children across generations
George Arlene
Sandra Tom Sam Wilma Ann Michael
Daniel Alan Tina
Christopher
Carla
● Inheritance patterns of particular traits can be traced and described using pedigrees
Figure 14.14 A, B
Ww ww ww Ww
wwWwWwwwwwWw
WWor
Ww
ww
First generation(grandparents)
Second generation(parents plus aunts
and uncles)
Thirdgeneration
(two sisters)
Ff Ff ff Ff
ffFfFfffFfFF or Ff
ff FForFf
Widow’s peak No Widow’s peak Attached earlobe Free earlobe
(a) Dominant trait (widow’s peak) (b) Recessive trait (attached earlobe)
1) Autosomal Recessive:
● recessive alleles that cause human disorders are usually defective versions of normal alleles
● defective alleles code for either a malfunctioning protein or no protein at all
● heterozygotes can be phenotypically normal, if 1 copy of the normal allele is all that is needed to produce sufficient quantities of the “good” protein
Examples: cystic fibrosis, Tay-Sachs, sickle cell anemia
● “Carriers” are heterozygous individuals who carry the recessive allele but are phenotypically normal
Cystic Fibrosis
● Symptoms of cystic fibrosis include:
-Mucus buildup in the some internal organs
-Abnormal absorption of nutrients in the small intestine
Sickle-Cell Disease
● Sickle-cell disease:-Affects one out of 400 African-Americans-Is caused by the substitution of a single amino acid in the hemoglobin protein in red blood cells
● Symptoms include:-Physical weakness, pain, organ damage, and even paralysis
2) Autosomal Dominant: ● only 1 dominant allele is needed in order to
produce the effects of these diseases (heterozygous)
● Lethal homozygous dominant condition results in spontaneous abortion of fetus
● homozygous recessives are of normal phenotype
Examples: achondroplasia, Huntington’s Disease
● ACHONDROPLASIA: a form of dwarfism that is lethal when homozygous for the dominant allele
Figure 14.15
● HUNTINGTON’S DISEASE: a degenerative disease of the nervous system
-it has no obvious phenotypic effects until about 35 to 40 years of age
Figure 14.16
Genetic Testing and Counseling
● Genetic counselors can provide information to prospective parents concerned about a family history for a specific disease
Counseling Based on Mendelian Genetics and Probability Rules
● Using family histories genetic counselors help couples determine the odds that their children will have genetic disorders
Tests for Identifying Carriers
● For a growing number of diseases tests are available that identify carriers and help define the odds more accurately
Fetal Testing
● AMNIOCENTESIS: the liquid that bathes the fetus is removed and tested
● CHORIONIC VILLUS SAMPLING (CVS): a sample of the placenta is removed and tested