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Discussion sections start next week. You will take a short pre-concept test-bring a pencil (it will not influence your grade in the course).
First Faculty Fellows Dining with Students lunch next Tuesday, Sept. 10, Noon, Jester City Limits.
Pedigree Analysis
A pedigree is a family tree that describes the interrelationships of parents and children across generations. Inheritance patterns of particular traits can be traced and described using pedigrees. Pedigrees can also be used to make predictions about future offspring.
Key
Male Female Affected male
Affected female
1st generation
Mating
Offspring
Ff
Ff
ff
Ff
Ww
ww
ww
Ww
2nd generation FF or Ff ff ff Ff Ff
ff
Ww ww ww Ww 3rd generation
Ww
ww
3rd generation ff FF or Ff
WW or Ww
Widows peak
ww
No widows peak
Attached earlobe
Free earlobe
Eggs
A AA Normal Aa Normal (carrier)
If a recessive allele that causes a disease is rare, then the chance of two carriers meeting and mating is low. However, matings between close relatives increase the chance of mating between two carriers of the same rare allele. Most societies and cultures have laws or taboos against marriages between close relatives.
Cystic Fibrosis
Cystic fibrosis is the most common lethal genetic disease in the United States, striking one out of every 2,500 people of European descent. The cystic fibrosis allele results in defective or absent chloride transport channels in plasma membranes leading to a buildup of chloride ions outside the cell. Symptoms include mucus buildup in some internal organs and abnormal absorption of nutrients in the small intestine.
Fig. 14-UN1
Heterozygotes (said to have sickle-cell trait) are usually healthy but may suffer some symptoms. About one out of ten African Americans has sickle cell trait, an unusually high frequency of an allele with detrimental effects in homozygotes. Heterozygotes are less susceptible to the malaria parasite, so there is an obvious advantage to being heterozygous in some environments. This is the reason that the allele remains in the population.
dd Normal
Multifactorial Disorders
Many diseases, such as heart disease, diabetes, alcoholism, mental illnesses, and cancer have both genetic and environmental components. Little is understood about the genetic contribution to most multifactorial diseases.
P Generation
Y Y R R
F1 Generation
R y r Y Meiosis
R r Y
LAW OF SEGREGATION The two alleles for each gene separate during gamete formation.
R
Y
r
Metaphase I y
LAW OF INDEPENDENT ASSORTMENT Alleles of genes on nonhomologous chromosomes assort independently during gamete formation. 1
1 R r Anaphase I Y R 2 Y Y R
1/ 4YR
r Y r
y r Metaphase II Y
y R 2 y
y y r
1/ 4
Gametes
Y R
y r yr
Y r
1/ 4
Y r Yr R
y R
1/ 4
yR
F2 Generation
3 Fertilization recombines the R and r alleles at random.
An F1 F1 cross-fertilization 9 : 3 : 3 : 1
Morgan noted wild type, or normal, phenotypes that were common in the fly populations. Traits alternative to the wild type are called mutant phenotypes.
Figure 15.4
CONCLUSION P Generation
X X w w X Y w
Eggs F1 Generation
Sperm
w
w
Eggs F2 Generation
w
Sperm
w w w
w w
X Y
Females are XX, and males are XY. Each ovum contains an X chromosome, while a sperm may contain either an X or a Y chromosome. Other animals have different methods of sex determination.
Figure 15.6
44 XY
Parents
44 XX
22 22 X or Y
22 X
Sperm
44 XX
Egg or
44 XY
76 ZW
76 ZZ
X-linked genes follow specific patterns of inheritance. For a recessive X-linked trait to be expressed:
A female needs two copies of the allele (homozygous). A male needs only one copy of the allele (hemizygous).
Therefore, X-linked recessive disorders are much more common in males than in females.
XNXN
XnY
XNXn
XNY
XNXn
XnY
XNXN XNY
XNXn XNY
XNXn XnY
XnXn XnY
Some disorders caused by recessive alleles on the X chromosome in humans: Color blindness (mostly X-linked) Duchenne muscular dystrophy Hemophilia
Figure 15.8
X chromosomes
Early embryo:
Inactive X
Black fur Orange fur
Active X
Linked Genes
Each chromosome has hundreds or thousands of genes (except the Y chromosome). Genes located on the same chromosome that tend to be inherited together are called linked genes. This is because they are located near each other on the same chromosome.
EXPERIMENT
P Generation (homozygous)
Wild type (gray body, normal wings) b b vg vg
Figure 15.9-1
EXPERIMENT
P Generation (homozygous)
Wild type (gray body, normal wings) b b vg vg F1 dihybrid (wild type) b b vg vg
Figure 15.9-2
b b vg vg
EXPERIMENT
P Generation (homozygous)
Wild type (gray body, normal wings) b b vg vg F1 dihybrid (wild type) b b vg vg Testcross offspring
Figure 15.9-4
b b vg vg Eggs b vg
b vg
b vg Grayvestigial
b vg
Blacknormal
Sperm
PREDICTED RATIOS
b b vg vg 1 1 : : :
b b vg vg 1 1 944 : : :
b b vg vg 1 0 206
b b vg vg
If genes are located on different chromosomes: If genes are located on the same chromosome and parental alleles are always inherited together:
:
: :
1 0 185
RESULTS
965
Morgan found that body color and wing size are usually inherited together in specific combinations (parental phenotypes). He noted that these genes do not assort independently, and reasoned that they were on the same chromosome. However, nonparental phenotypes were also produced. Understanding this result involves exploring genetic recombination, the production of offspring with combinations of traits differing from either parent. And thus also relate to the chromosomal basis of recombination.
Testcross parents
b vg
Replication of chromosomes b vg
b vg b vg b vg b vg
b vg b vg
Meiosis I b vg
b vg b vg Meiosis I and II
b vg Meiosis II
b vg Recombinant chromosomes bvg b vg b vg b vg
Eggs
Testcross offspring
944 Blackvestigial
206 Grayvestigial b vg b vg
185 Blacknormal b vg b vg
b vg
b vg
b vg
Sperm
Recombinant offspring
Linkage maps
A linkage map is a genetic map of a chromosome based on recombination frequencies. Distances between genes can be expressed as map units; one map unit, or centimorgan, represents a 1% recombination frequency. Map units indicate relative distance and order, not precise locations of genes.
cn
vg
Genes that are far apart on the same chromosome can have a recombination frequency near 50%. Such genes are physically linked, but genetically unlinked, and behave as if found on different chromosomes.
Sturtevant used recombination frequencies to make linkage maps of fruit fly genes. Using methods like chromosomal banding, geneticists can develop cytogenetic maps of chromosomes. Cytogenetic maps indicate the positions of genes with respect to chromosomal features.
Mutant phenotypes Short aristae Black body Cinnabar Vestigial eyes wings Brown eyes
48.5 57.5
67.0
104.5
Gray body
Red eyes
Normal wings
Red eyes
Wild-type phenotypes
Meiosis I
Nondisjunction
Meiosis I
Nondisjunction Meiosis II
Nondisjunction
Meiosis I
Nondisjunction Meiosis II
Nondisjunction Gametes
n 1 n 1 n 1 n 1
(a) Nondisjunction of homologous chromosomes in meiosis I
n 1 n 1
Aneuploidy results from the fertilization of gametes in which nondisjunction occurred. Offspring with this condition have an abnormal number of a particular chromosome. A monosomic zygote has only one copy of a particular chromosome. A trisomic zygote has three copies of a particular chromosome.
Polyploidy is a condition in which an organism has more than two complete sets of chromosomes:
Triploidy (3n) is three sets of chromosomes Tetraploidy (4n) is four sets of chromosomes
Polyploidy is common in plants, but not animals. Polyploids are more normal in appearance than aneuploids.
(a) Deletion
A B C D E F G H
(b) Duplication
A B C D E F G H
(c) Inversion
A B C D E F G H
(d) Translocation
A B C D E F G H M N O P Q R
Genomic Imprinting
For a few mammalian traits, the phenotype depends on which parent passed along the alleles for those traits. Such variation in phenotype is called genomic imprinting. Genomic imprinting involves the silencing of certain genes that are stamped with an imprint during gamete production.
(b) Heterozygotes
It appears that imprinting is the result of the methylation (addition of CH3) of cysteine nucleotides. Genomic imprinting is thought to affect only a small fraction of mammalian genes. Most imprinted genes are critical for embryonic development.
Some defects in mitochondrial genes prevent cells from making enough ATP and result in diseases that affect the muscular and nervous systems:
For example, mitochondrial myopathy and Lebers hereditary optic neuropathy