Chapter 11: Complex Inheritance and Human Heredity

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Transcript Chapter 11: Complex Inheritance and Human Heredity

Chapter 11: Complex
Inheritance and Human
Section 11.1: Basic Patterns of Human Inheritance
Section 11.2: Complex Patterns of Inheritance
Section 11.3: Chromosomes and Human Heredity
Section 11.1: Basic Patterns of Human
Main idea: The inheritance of a trait over several
generations can be shown in a pedigree
– Analyze generic patterns to determine dominant or
recessive inheritance patterns
– Summarize examples of dominant and recessive
– Construct human pedigrees from generic information
Review Vocabulary
– Genes: segments of DNA that control the production of
New Vocabulary
– Carrier
– Pedigree
Recessive Genetic Disorders
Mendel’s work was ignored for more than 30 years
During the early 1900’s scientists began to take an
interest in heredity and Mendel’s work was rediscovered
Dr. Archibald Garrod, an English physician, became
interested in a disorder linked to an enzyme deficiency
called alkaptonuria, which results in black urine and runs
in families.
A recessive trait is expressed when the individual is
homozygous recessive for the trait.
Therefore, those with at least one dominant allele will not
express the recessive trait.
An individual who is heterozygous for a recessive disorder
is called a carrier
Recessive Genetic Disorders
Cystic Fibrosis
 Affects
the mucus-producing glands,
digestive enzymes, and sweat glands
 Chloride ions are not absorbed into
the cells of a person with cystic
fibrosis but are excreted in the
 Without sufficient chloride ions in the
cells, a thick mucous is secreted.
 Caused
by altered genes, resulting in
the absence of the skin pigment
melanin in hair and eyes
 White hair
 Very pale skin
 Pink pupils
Tay-Sachs Disease
 Caused
by the absence of the
enzymes responsible for breaking
down fatty acids called gangliosides.
 Gangliosides accumulate in the brain,
inflating brain nerve cells and
causing mental deterioration.
 Recessive
genetic disorder
characterized by the inability of the
body to digest galactose.
 Severity of condition varies.
Dominant Genetic Disorders
 Caused
by dominant alleles
 Those who do not have the disorder
are homozygous recessive.
 Huntington’s disease affects the
nervous system.
 Achondroplasia is a genetic condition
that causes small body size and
limbs that are comparatively short
Dominant Genetic Disorders
A diagram that traces the inheritance of a
particular trait through several
 Inferring
– Knowing physical traits can determine
what genes an individual is most likely
to have.
 Predicting
– Record keeping helps scientists use
pedigree analysis to study inheritance
patterns, determine phenotypes, and
ascertain genotypes.
11.2 Complex Patterns of
Main idea-Complex inheritance of traits does not
follow inheritance patterns described by Mendel
– Distinguish between various complex inheritance
– Analyze sex-linked and sex-limited inheritance patterns
– Explain how the environment can influence the
phenotype of an organism
Review Vocabulary
– Gamete: a mature sex cell (sperm or egg) with a
haploid number of chromosomes
New Vocabulary
Incomplete dominance
Multiple alleles
Sex chromosome
Sex-linked trait
Polygenic trait
Incomplete Dominance
The heterozygous phenotype is an
intermediate phenotype between the two
homozygous phenotypes.
Both alleles are
expressed in the
 Example
– Sickle-cell Disease
 Changes
in hemoglobin
cause red blood cells to
change to a sickle
 People who are
heterozygous for the
trait have both normal
and sickle-shaped cells
Multiple Alleles
Blood groups in
 ABO blood groups
have three forms
of alleles
Multiple Alleles
Coat Color of
– Multiple
alleles can
a hierarchy
– In rabbits,
four alleles
code for
color: C, cch,
cc, and c.
Variety is the result of one allele hiding
the effects of another allele.
No dark pigment present
Dark pigment
Sex Determination
Sex chromosomes
determine an
Dosage Compensation
 The
X chromosome carries a variety
of genes that are necessary for the
development of both females and
 The Y chromosome mainly has genes
that relate to the development of
male characteristics
 Chromosome inactivation
 Barr bodies
Sex-linked Traits
 Genes
located on the X chromosome
 Since males have only one
chromosome, they are affected by
recessive X-linked traits more often
than are females
 Red-green color blindness
 Hemophilia
Polygenic Traits
Polygenic traits arise from the interaction of
multiple pairs of genes
Skin color, height, eye color, and fingerprint
Environmental Influences
 Environmental
factors affect
– Diet and exercise
– Sunlight and water
– Temperature
Twin Studies
 Helps
scientists separate genetic
contributions from environmental
 Traits that appear frequently in
identical twins are at least partially
controlled by heredity.
 Traits expressed differently in
identical twins are strongly
influenced by environment
11.3 Chromosomes and Human
Main idea – Chromosomes can be studied using karyotypes.
– Distinguish normal karyotypes from those with abnormal
numbers of chromosomes.
– Define and describe the role of telomeres.
– Relate the effect of nondisjunction to Down syndrome and
other abnormal chromosome numbers.
– Assess the benefits and risks of diagnostic fetal testing
Review Vocabulary
– Mitosis- a process in the nucleus of a dividing cell, including
prophase, metaphase, anaphase, and telophase
New Vocabulary
– Karyotype
– Telomere
– Nondisjunction
Karyotype Studies
Karyotype-micrograph in which the pairs
of homologous chromosomes are arranged
in decreasing size
 Images of chromosomes stained during
 Chromosomes are arranged in decreasing
size to produce a micrograph
 22 autosomes are matched together with
one pair of nonmatching sex
 Protective
caps consist of DNA
associated with proteins
 Serves a protective function for the
sttructure of the chromosome
 Might be involved in both aging and
Cell division during which sister
chromatids fail to separate properly
 Results in extra copy of chromosome or
only one copy of a chromosome
 Having a set of three chromosomes of one
kind is trisomy
 Having only one copy of a chromosome is
 Down Syndrome – Trisomy 21
– Distinctive facial features, short stature, heart
defects, and mental disability
 Sex
– XX – Normal female
– XO – Female with Turner’s Syndrome
– XXX – Nearly normal female
– XY – Normal male
– XXY – Male with Klinefelter’s Syndrome
– XYY – Normal or nearly normal male
– OY – Results in death
Fetal Testing
Used to diagnosis genetic disorders before birth
– Benefits-diagnosis of chromosome abnormalities and other
– Risks-discomfort for expectant mother, slight risk of
infection, and risk of miscarriage
Chorionic villus sampling
– Benefits-diagnosis of chromosome abnormalities and certain
genetic defects
– Risks-miscarriage, infection, and newborn limb defects
Fetal blood sampling
– Benefits-diagnosis of genetic or chromosomal abnormality,
checks for fetal problems and oxygen levels, and
medications can be given to the fetus before birth
– Risks-bleeding from sample site, infection, amniotic fluid
might leak, and fetal death