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Transcript of Chapter 9 Patterns of Inheritance Pre-AP Biology Ms. Haut.
![Page 1: Chapter 9 Patterns of Inheritance Pre-AP Biology Ms. Haut.](https://reader035.fdocuments.in/reader035/viewer/2022062313/56649ced5503460f949babee/html5/thumbnails/1.jpg)
Chapter 9Patterns of Inheritance
Pre-AP Biology
Ms. Haut
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Modern Theory of Heredity
• Based on Gregor Mendel’s fundamental principles of heredity– Parents pass on discrete inheritable factors
(genes) to their offspring – These factors remain as separate factors from
one generation to the next
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Experimental genetics
•Began with Gregor Mendel’s quantitative experiments with pea plants
• These plants are easily manipulated.• These plants can self-fertilize.
Figure 9.3Figure 9.2
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Mendel’s Discoveries
• Developed true-breeding lines—populations that always produce offspring with the same traits as the parents when parents are self-fertilized
• Mendel then crossed two different true-breeding varieties.
• Counted his results and kept statistical notes on experimental crosses
Figure 9.4
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Figure 9.5
Mendel’s Law of Segregation
• Mendel performed many experiments.
• 1st Law of genetics– The two members of
an allele pair segregate (separate) from each other during the production of gametes.
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– Based on Mendel, we’ve developed four hypotheses from the monohybrid cross:
• There are alternative forms of genes, called alleles.• For each characteristic, an organism inherits two
alleles, one from each parent.• If 2 alleles differ, one is fully expressed (dominant
allele); the other is completely masked (recessive allele)
• Gametes carry only one allele for each inherited characteristic.
– 2 alleles for each trait segregate during gamete production
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Useful Genetic Vocabulary
• Homozygous—having 2 identical alleles for a given trait (PP or pp)
• Heterozygous—having 2 different alleles for a trait (Pp); ½ gametes carry one allele (P) and ½ gametes carry the other allele (p)
• Phenotype—an organism’s expressed traits (purple or white flowers)
• Genotype—an organism’s genetic makeup (PP, Pp, or pp)
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Monohybrid Crosses
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x
x
x
x
x
x
x
Ratio3.15:1
3.14:1
3.01:1
2.96:1
2.95:1
2.82:1
2.84:1
3:1
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Punnett Square
• Cross a heterozygous tall pea plant with a dwarf pea plant.
• T = tall, t = dwarf
Tt x tt
TtT
t
tt
t t
Tt Tt
tt tt
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The Testcross
• The cross of an individual displaying the dominant phenotype to a homozygous recessive parent
• Used to determine if the individual is homozygous dominant or heterozygous
CAUTION:Must perform many, many crosses to be statistically significant Figure 9.10
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Genetic Alleles and Homologous Chromosomes
– Homologous chromosomes• Have genes at specific loci.• Have alleles of a gene at the same locus.
Figure 9.7
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Mendel’s Law of Independent Assortment
• During gamete formation, the segregation of the alleles of one allelic pair is independent of the segregation of another allelic pair– Law discovered by following segregation of 2
genes (dihybrid cross)
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Dihybrid Cross
Figure 9.8
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Gamete formation
AaBb
ABAbaBab
AABb ABAbABAb
AaBbCc
ABCABcAbCAbc
aBCaBcabCabc
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Mendelian Inheritance Reflects Rules of Probability
• Rule of Multiplication: The probability that independent events will occur simultaneously is the product of their individual probabilities.
What is the probability that you will roll a 6 and a 4?
1/6 x 1/6 = 1/36 chance
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• Question: In a Mendelian cross between pea plants that are heterozygous for flower color (Pp), what is the probability that the offspring will be homozygous recessive?
• Answer: Probability that an egg from the F1 (Pp) will
receive a p allele = ½ Probability that a sperm from the F1 will receive
a p allele = ½ Overall probability that 2 recessive alleles will
unite at fertilization: ½ x ½ = ¼
Mendelian Inheritance Reflects Rules of Probability
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Mendelian Inheritance Reflects Rules of Probability
• Question: For a dihybrid cross, YyRr x YyRr, what is the probability of an F2 plant having the genotype YYRR?
• Answer: Probability that an egg from a YyRr parent will
receive the Y and R alleles = ½ x ½ = ¼ Probability that a sperm from a YyRr parent will
receive the Y and R alleles = ½ x ½ = ¼ Overall probability of an F2 plant having the
genotype YYRR: ¼ x ¼ = 1/16
Works for Dihybrid Crosses:
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Mendelian Inheritance Reflects Rules of Probability
• Rules of Addition: The probability of an event that can occur in two or more independent ways is the sum of the separate probabilities of the different ways.
What is the probability that you will roll a 6 or a 4?
1/6 + 1/6 = 2/6 or 1/3 chance
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Mendelian Inheritance Reflects Rules of Probability
• Question: In a Mendelian cross between pea plants that are heterozygous for flower color (Pp), what is the probability that the offspring will being a heterozygote?
• Answer: There are 2 ways in which a heterozygote may
be produced: the dominant allele may be in the egg and the recessive allele in the sperm, or the dominant allele may be in the sperm and the recessive allele in the egg.
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Mendelian Inheritance Reflects Rules of Probability
• Probability that the dominant allele will be in the egg with the recessive in the sperm is ½ x ½ = ¼
• Probability that the dominant allele will be in the sperm with the recessive in the egg is ½ x ½ = ¼
• Therefore, the overall probability that a heterozygote offspring will be produced is ¼ + ¼ = ½
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Pedigree Analysis
• Analysis of existing populations
• Studies inheritance of genes in humans
• Useful when progeny data from several generations is limited
• Useful when studying species with a long generation time
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Pedigree Analysis
http://en.wikipedia.org/wiki/Image:PedigreechartB.png
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Dominant Pedigree:
I
II
III
For dominant traits:1. Every affected individual has at least one affected
parent;2. Affected individuals who mate with unaffected
individuals have a 50% chance of transmitting the trait to each child;
3. Two affected individuals may have unaffected children.
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http://www.hhmi.org/genetictrail/e100.html
Dominant Disorders: A Fifty-Fifty Chance
• The affected parent has a single defective gene (D), which dominates its normal counterpart (n).
• Each child has a 50 percent risk of inheriting the faulty gene and the disorder.
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Recessive Pedigree:
I
II
III
For recessive traits:1. An individual who is affected may have parents
who are not affected2. All the children of two affected individuals are
affected; 3. In pedigrees involving rare traits, the unaffected
parents of an affected individual may be related to each other.
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Recessive Disorders: One Chance in Four
• Both parents carry a single defective gene (d) but are protected by the presence of a normal gene (N)
• Two defective copies of the gene are required to produce a disorder.
• Each child has a 50 percent chance of being a carrier like both parents and a 25 percent risk of inheriting the disorder.
http://www.hhmi.org/genetictrail/e110.html
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Recessive Human Disorders
• Sickle-cell anemia; autosomal recessive– Caused by single amino acid substitution in
hemoglobin– Abnormal hemoglobin packs together to
form rods creating crescent-shaped cells– Reduces amount of
oxygen hemoglobin can carry
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Genetic Testing & Counseling
• Genetic counselors can help determine probability of prospective parents passing on deleterious genes– Pedigree analysis
– Genetic screening
– Fetal testing• Karyotype
• Chemical testing
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Pedigree Analysis
• Neither Jan nor Bill knew they each carried the faulty CF gene until they had Sue, as there were no other family members who had the condition.
• Jan is currently 8 weeks pregnant. What is the probability the baby will have CF? Be a carrier?
www.genetics.com.au/factsheet/19.htm
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Genetic Screening
• DNA is examined using direct gene testing to see if the mutation in each allele of the gene involved can be identified
• Since a mutation is detected, testing can be offered to Jan and Bill in this or future pregnancies.
• It will be possible to examine the baby’s DNA for the mutation
www.genetics.com.au/factsheet/19.htm
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Amniocentesis and chorionic villus sampling (CVS)
• Allow doctors to remove fetal cells that can be tested for genetic abnormalities (karyotype/chemical testing)
• Some risk of complications—so reserved for those with higher possibility of genetic disorder
Figure 9.1
http://fig.cox.miami.edu/~cmallery/150/mendel/c14x17amniocentesis.jpg
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Fetal imaging
• Ultrasound—uses sound waves to produce a picture of the fetus
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Variations to Mendel’s First Law of Genetics
• Incomplete dominance—pattern of inheritance in which one allele is not completely dominant over the other– Heterozygote has a phenotype that is
intermediate between the phenotypes of the homozygous dominant parent and homozygous recessive parent
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Incomplete Dominance in Snapdragon Color
Genotypic ratio:
Phenotypic ratio:
1 CRCR: 2 CRCW: 1 CWCW
1 red: 2 pink: 1 white
F2
Figure 9.16
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Variations to Mendel’s First Law of Genetics
• Codominance—pattern of inheritance in which both alleles contribute to the phenotype of the heterozygote
• Roan Cattle
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In chickens, black feather color (BB) is codominant to white feather color (WW). Both feather colors show up in a checkered pattern in the heterozygous individual (BW).
Cross a checkered hen with a checkered rooster. What are the genotypic and phenotypic ratios?
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Example of Codominance
• Ex: Feather colors in chickens
• Black (BB) x White (WW) = Black and White checkered Chicken
B W
B
W
BB
WWBW
BW
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Multiple Alleles
• Some genes may have more than just 2 alternate forms of a gene.
• Example: ABO blood groups– A and B refer to 2 genetically determined
polysaccharides (A and B antigens) which are found on the surface of red blood cells (different from MN blood groups)
• A and B are codominant; O is recessive to A and B
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Multiple Alleles for the ABO Blood Groups
3 alleles: IA, IB, i
Figure 9.18
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Blood Types
• The immune system produces blood proteins– That may cause
clotting when blood cells of a different type enter the body.
Figure 9.19
http://www.biologycorner.com/resources/blood_type.jpg
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Example of ABO Blood Groups
• Ex: Feather colors in chickens
• Black (BB) x White (WW) = Black and White checkered Chicken
IA IB
IA
i
IA IA
IB iIA i
IA IB
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Pleiotropy
• The ability of a single gene to have multiple phenotypic effects (pleiotropic gene affects more than one phenotype)
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Polygenic Traits
• Skin pigmentation in humans--3 genes with the dark-skin allele (A, B, C) contribute one “unit” of darkness to the phenotype.
• These alleles are incompletely dominant over the other alleles (a, b, c)--An AABBCC person would be very dark; an aabbcc person would be very light--An AaBbCc person would have skin of an intermediate shade
Figure 9.21
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Polygenic Trait
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Chromosome Theory of Inheritance
• Based on Mendel’s observations and genetic studies and cytological evidence– Genes are located at specific positions on
chromosomes.– The behavior of chromosomes during meiosis
and fertilization accounts for inheritance patterns.
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Figure 9.23
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– Certain genes are linked• They tend to be inherited
together because they reside close together onthe same chromosome
Experiment
Explanation: linked genes
PpLI PpLI Long pollen
Observed PredictionPhenotypes offspring (9:3:3:1)
Purple longPurple roundRed longRed round
Parentaldiploid cellPpLI
Most gametes
Mostoffspring Eggs
3 purple long : 1 red roundNot accounted for: purple round and red long
Meiosis
Fertilization
Sperm
284212155
215717124
P I
P L
P L
P L
P LP LP I
P L P I
P I
P L
P I
P I
P I
P I
P L
Purple flower
Figure 9.19
Genes on the same chromosome tend to be inherited together
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– Crossing over can separate linked alleles• Producing gametes with recombinant
chromosomes
Crossing over produces new combinations of alleles
Figure 9.25
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•Thomas Hunt Morgan – Performed some of the early studies of crossing over
using the fruit fly Drosophila melanogaster
•Experiments with Drosophila revealed linkage traits. Why Drosophila?
– Easily cultured– Prolific breeders– Short generation times– Only 4 pairs of chromosomes, visible under
microscope
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Morgan’s experiments
•Demonstrated the roleof crossing over in inheritance
Figure 9.24
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Morgan’s experiments
•Two linked genes– Can give rise to four
different gamete genotypes.
– Can sometimes cross over.
Figure 9.26
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– Morgan and his students• Used crossover data to map genes in
Drosophila
Figure 9.21 A
Geneticists use crossover data to map genes
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Linkage Map• Alfred Sturtevant
hypothesized that the frequency of recombinants reflected the distances between genes on a chromosome.– The farther apart two
genes are, the higher the chance of crossover between them and therefore a higher recombination frequency.
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
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Can be used to map the relative positions of genes on chromosomes.
Figure 9.21 B
Mutant phenotypes
Shortaristae
Blackbody(g)
Cinnabareyes(c)
Vestigialwings(l)
Browneyes
Long aristae(appendageson head)
Gray body(G)
Redeyes(C)
Normalwings(L)
Redeyes
Wild-type phenotypes
Chromosomeg c l
9% 9.5%
17%
Recombinationfrequencies
Figure 9.21 C
Recombination frequencies
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Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Fig. 15.5b
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• Sturtevant used the testcross design to map the relative position of three fruit fly genes, body color (b), wing size (vg), and eye color (cn).– The recombination frequency between cn and
b is 9%.– The recombination frequency between cn and
vg is 9.5%.– The recombination frequency between b and
vg is 17%.– The only possible
arrangement of these three genes places the eye color gene between the other two.
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
Fig. 15.6
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• Sturtevant expressed the distance between genes, the recombination frequency, as map units.– One map unit (sometimes called a
centimorgan) is equivalent to a 1% recombination frequency.
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What is the sequence of these three genes on the chromosome?
• A series of matings shows that the recombination frequency between the black-body gene (b) and the gene for short wings (s) is 36%. The recombination frequency between purple eyes (p) and short wings is 41%. The recombination frequency between black-body gene and purple eyes is 6%.
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Answer
B 36% SP 41% S
B 6% P
P 6% BB 36% S 6% + 36% = 42%P 41% S
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• You may notice that the three recombination frequencies in our mapping example are not quite additive: 9% (b-cn) + 9.5% (cn-vg) > 17% (b-vg).
• This results from multiple crossing over events.– A second crossing over “cancels out” the first
and reduces the observed number of recombinant offspring.
– Genes father apart (for example, b-vg) are more likely to experience multiple crossing over events.
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
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• Some genes on a chromosome are so far apart that a crossover between them is virtually certain.
• In this case, the frequency of recombination reaches is its maximum value of 50% and the genes act as if found on separate chromosomes and are inherited independently.
Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings
•If the recombination frequency is 50% or greater, the genes are not linked•If the recombination frequency is less than 50%, the genes are linked
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SEX CHROMOSOMES AND SEX-LINKED GENES
•Chromosomes determine sex in many species
– In mammals, a male has one X chromosome and one Y chromosome
• And a female has two X chromosomes
– The Y chromosome• Has genes for the
development of testes (SRY)
– The absence of a Y chromosome
• Allows ovaries to develop
Figure 9.28
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– Other systems of sex determination exist in other animals and plants
22+
XX
22+X
76+
ZW
76+
ZZ
32 16
Figure 9.22 D
Figure 9.22 C
Figure 9.22 B
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Sex-linked Genes
• Any gene located on a sex chromosome
• Not much crossing over between X and Y chromosomes so DNA passed on in tact
• For recessive trait on the X chromosome to be expressed:– In females, must have 2 copies of the allele– In males, one copy is enough
XRXr XrY
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•Sex-linked genes– Were discovered during studies on fruit
flies.
Figure 9.23 A
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•The inheritance pattern of sex-linked genes
– Is reflected in females and males
Figure 9.30
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X-Linked Disorders: Males are at Risk
– A male receiving a single X-linked allele from his mother
• Will have the disorder
– A female • Has to receive the
allele from both parents to be affected
http://www.hhmi.org/genetictrail/e120.html
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Hemophilia and the Romanov Family
http://biology.clc.uc.edu/graphics/bio105/royal%20hemophilia.jpg http://images.encarta.msn.com/xrefmedia/sharemed/targets/images/pho/t045/T045093A.jpg
Nicholas II, the Last Russian Tsar