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AP Biology

Chapter 14 & 15

Chapter 14: Mendel and the Gene Idea


Character-flower color
Trait-specific: purple or white
Hybridization-the mating or crossing of 2 true-breeding varieties
P generation- parental generation
F1- first filial generation
F2- second filial generation

4 Concepts of Mendel’s Model:


1) Alternative versions of genes account for variations in inherited characters.
2) For each character, an organism inherits 2 allele, one from each parent.
3) If the 2 alleles at a locus differ, then one, the dominant allele, determines the organism’s
appearance; the other, the recessive allele, has no noticeable effect on the organism’s
appearance.
4) Law of segregation states that 2 alleles for heritable characters separate during gamete
formation and end up in different gametes.

Phenotype- physical traits


Genotype- genetic makeup

Testcross- breeding of a recessive homozygote with an organism of dominant phenotype but


unknown genotype. Ex: Figure 14.7

Monohybrid- heterozygous for one character.


Dihybrid- heterozygous for both characters.

Law of Independent Assortment- each pair of alleles segregates independently of other pairs
of alleles during gamete formation.

Complete dominance- F2 plants always look like one of the 2 parental varieties.
Codominance- 2 alleles both affect the phenotype in separate distinguishable ways.
Incomplete dominance-the alleles for some characters fall in the middle of the spectrum of
dominance. (ie. Pink snapdragons)

Tay-Sachs disease- an inherited disorder in humans. The brain cells of a baby with Tay-
Sachs disease are unable to metabolize certain lipids because a crucial enzyme does not
work properly. As these lipids accumulate in the brain cells, an infant begins to suffer
seizures, blindness, and degeneration of motor and mental performances. An affected child
dies within a few years.
Only children who inherit 2 copies of this allele have the disease.

Pleiotropy- multiple phenotypic effects. For example: pleiotropic alleles are responsible for
the multiple symptoms associated with certain hereditary diseases in humans, such as cystic
fibrosis and sick-cell disease.
Epistasis: a gene at one locus alters the phenotypic expression of a gene at a second locus.
(example: fur in mice controls color)

Norm of reaction- genotype that is generally not associated with a rigidly defined phenotype,
but rather with a range of phenotypic possibilities due to environmental influences. (nature vs.
nurture)
Multifactorial- many factors, both genetic and environmental, collectively influence phenotype.
(example: skin color)

The term phenotype can refer not only to specific characters, such as
flower color and blood group, but also to an organism in its entirety—all
aspects of its physical appearance, internal anatomy, physiology, and
behavior. Similarly, the term genotype can refer to an organism’s entire
genetic makeup, not just its alleles for a single genetic locus.

Carriers- heterozygotes may transmit the recessive allele to their offspring, which makes
them a carrier.

Cystic fibrosis- the normal allele for this gene codes for a membrane protein that functions
in chloride ion transport between certain cells and the extracellular fluid. These chloride
transport channels are defective or absent in the plasma membranes of children who inherit
two recessive alleles for cystic fibrosis.
Sickle-cell disease- caused by the substitution of a single amino acid in the hemoglobin
protein of the red blood cells.
Huntington’s disease- a degenerative disease of the nervous system, caused by a lethal
dominant allele that has no obvious phenotypic effect until the individual is about 35 to 45
years old.
Achondroplasia- dwarfism.
Both Huntington’s disease and Achondroplasia are dominant.

Amniocentesis- a physician inserts a needle into the uterus and extracts about 10 ml of
amniotic fluid, the liquid that bathes the fetus.
Chorionic villus sampling (CVS)- a physician inserts a narrow tube through the cervix into the
uterus and suctions out a tiny sample of tissue from the placenta, the organ that transmits
nutrients and fetal wastes between the fetus and the mother.

In the ultrasound technique, sound waves are used to produce an image of the fetus by a
simple noninvasive procedure. In fetoscopy, a needle-thin tube containing a viewing scope
and fiber optics (to transmit light) is inserted into the uterus.
Ultrasound has no known risk to either mother or fetus, but amniocentesis and fetoscopy
cause complications, such as maternal bleeding or even fetal death, in about 1% of cases.

One common screening program is for phenylketonuria (PKU), a recessively inherited


disorder. Children with this disease cannot properly break down the amino acid
phenylalanine. This compound and its by-product, phenylpyruvate, can accumulate to toxic
levels in the blood, causing mental retardation.
Chapter 15: The Chromosomal Basis of Inheritance

Chromosome theory of inheritance- Mendelian genes have specific loci (positions) on


chromosomes, and it is the chromosomes that undergo segregation and independent
assortment.

Linked genes- genes located on the same chromosome that tend to be inherited together in
genetic crosses.
Genetic recombination- the production of offspring with combinations of traits differing from
those found in either parent.

Because these offspring have new combinations of seed shape and color, they are called
recombinant types.

General: Specific:
Genetic map- an ordered list of the genetic Linkage map- a genetic map based on
loci along a particular chromosome. recombination frequencies.

Map units- the distances between genes, defining one map unit as equivalent to a 1%
recombination frequency.
Cytogenetic maps- locate genes with respect to chromosomal features, such as stained
bands, that can be seen in microscopes.
Sex-linked gene- a gene located on either sex chromosome.
Fathers pass sex-linked alleles to all their daughters but to none of their sons. In contrast,
mothers can pass sex-linked alleles to both sons and daughters.
If a sex-linked trait is due to a recessive allele, a female will express the phenotype only if she
is a homozygote.
For this reason, far more males than females have sex-linked recessive disorders. <==Why?
Duchenne muscular dystrophy- a sex-linked disorder which progressively weakens the
muscles and loses coordination of the body.
Barr body- the inactive X in each cell of a female condenses into a compact object which lies
along the inside of the nuclear envelope. Most of the genes of the X chromosome that forms
the Barr body are not expressed. In the ovaries, Barr-body chromosomes are reactivated in
the cells that give rise to ova, so every female gamete has an active X.
Thus, if a female is heterozygous for a sex-linked trait, about half her cells will express one
allele, while the other will express the alternate allele.
Nondisjuction- the members of a pair of homologous chromosomes do not move apart
properly during meiosis I or sister chromatids fail to separate during meiosis II.
a) deletion
b) duplication
c) inversion
d) translocation
aneuploidy- a condition where the offspring have an abnormal number of a particular
chromosome. (Example: Down syndrome is a type of aneuploidy)
polyploidy- chromosomal alteration. It is fairly common in the plant kingdom.

Down syndrome- an extra chromosome 21, so that each body cell has a total of 47
chromosomes. Because the cells are trisomic for chromosome 21, Down syndrome is often
called trisomy 21. Down syndrome includes characteristic facial features, short stature, heart
defects, susceptibility to respiratory infection, and mental retardation. Furthermore, people
with Down syndrome can possibly get leukemia and Alzheimer’s disease. <==Why?

Klinefelter syndrome: Turner syndrome:


An extra X chromosome in a male, Females with trisomy (XXX), cannot be
producing XXY. Males have abnormal distinguished from XX females except by
feminine features and are sterile. karyotype. Monosomy X, called Turner
Males with an extra Y chromosome. (XYY) syndrome.
do not exhibit any well-defined syndrome,
but they tend to be somewhat taller than
average.

Cri du chat- results from a specific deletion of chromosome 5. A child born with this deletion
is mentally retarded, has a small head with unusual facial features. And has a cry that sounds
like the mewing of a distressed cat. Such individuals usually die in infancy or early childhood.
Chronic myelogenous leukemia- chromosomal translocations have been implicated in
certain cancers.
Genomic imprinting- variations in phenotype depending on whether an allele is inherited
from male or female parent.
Extranuclear genes-some genes are located in the organelles in the cytoplasm.

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