Chapter_09.

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Patterns of Inheritance
Introduction
Big Ideas

Mendel's Laws
Variations on Mendel's Laws
The chromosomal basis of inheritance
sex chromosomes and sex-linked genes

Mendel's Laws
early study of genetics

Pangenesis (泛生論) by Hippocrates

particles called pangenes (from organisms' bodies ----> eggs & sperm)
characteristics acquired in later life could be transferred to offspring
rejection of Pangenesis by Aristotle (Potential)
reproductive cells are not composed of particles from somatic (body) cells
changes in somatic cells don't influence eggs and sperm
19th century: the blending hypothesis
hereditary materials mix when forming offspring
rejected, cuz couldn't explain how traits reappear

origins of the science of genetics

Key concepts
Heredity: the transfer of traits
Genetics: scientific study of heredity
Gregor Mendel
began the field of genetics in the 1860s
deduced principles of genetics by breeding garden peas
has a background of maths, physics, and chem
in 1866
correctly argued offspring inherited "heritable factors"
said that heritable factors (genes) retain there individuality between generations
Heritable features
character (e.g. flower colour, wing length)
trait (e.g. purple, white, long, short)
Mendel's controlled matings
petals of the pea flower encloses reproductive organs (stamen雄蕊 and carpel雌蕊)
pea plants usually self-fertilize in nature
types of breeds
 True-breeding: self-fertilization, identical to parent
Hybrids: offspring of two different varieties
cross-fertilization = hybridization or genetic cross
naming
P generation: true-breeding parental plants (parental)
F1 generation: hybrid offspring (filial)
F2: cross of F1 plants

Mendel's law of segregation: inheritance of a single character

Monohybrid cross 單性狀雜交: cross of 2 individuals that only differ in one character
Mendel crossed a plant with purple flowers and a plant with white ones
F1 generation: 100% purple
F2 generation: 75% purple & 25% white
Observations
F1 generation didn't produce purple flowers (disproving the blending hypothesis)
Questions from this experiment
1. why white disappeared in F1
2. why white reappeared in F2
Mendel's hypothesis
Alleles (對偶基因): alternative version of genes
organisms inherit two alleles, 1 from each parent per 1 characteristic
homozygous genotype (同型合子): identical alleles
heterozygous genotype (異型合子): 2 different alleles
dominant allele dictates the appearance of heterozygous genotypes
the other is called the recessive allele
sperm or eggs carry 1 allele for each character (law of segregation)
terms
phenotype: appearance or expression of a trait
genotype: genetic makeup of a trait
explanation for 3:1 ration in F2 generation
- F1 hybrids all have a Pp genotype
- Punnet square
Homologous chromosomes bear alleles for each character
Locus: the specific location of a gene on a chromosome
In a pair of homologous chromosomes, alleles of a gene are on the same locus
- Homozygous individuals: same allele
- Heterozygous individuals: different allele

Law of independent assortment

dihybrid cross: mating of parental varieties with 2 differing characters
Mendel's dihybrid cross experiments
- P gen: round yellow seeds x wrinkled green seeds
- F1 gen: 100% round yellow seeds
 - F2 gen: yellow round 9: green round 3: yellow wrinkled 3: green wrinkled 1

Mendel's hypothesis (law of independent assortment)

inheritance of one character doesn't affect the inheritance of another
dihybrid cross = 2 monohybrid crosses

Testcross: a method to determine unknown genotypes

testcross: mating between an individual of unknown genotype and homozygous recessive individual
uses
to show whether the unknown genotype includes a recessive allele

Mendel's laws reflects rules of probability

mathematical probability affected

allele pairs separate during gamete formation (segregation)
re-forming of pairs during fertilization
rule of multiplication: probability is the product of the probabilities of each event
rule of addition: the probability that an event can happen in more ways than 1 is summed

Many traits are controlled by a single gene

dominant traits don't mean they are normal or more common

Wild-type traits
most often seen in nature
not necessarily specified by dominant alleles
some genetics disorders are inherited as dominant or recessive traits controlled by a single gene (all
genes located on autosomes)
thousands of human genetic disorders are inherited as recessive traits
most people who have recessive disorders have parents who
 are both heterozygotes with the recessive allele for the disorder
are phenotypically normal
most common lethal genetic disease in the US: cystic fibrosis
recessive
1/31 americans have it
cystic fibrosis
characterized by excessive secretion of thick mucus from lungs and other organs
most common in Caucasians
Dominant human disorders
Huntington's disease: degenerative nervous system disorder
Achondroplasia: a form of dwarfism

Technologies that help us understand one's genetics

Modern technologies can obtain genetic information

before conception
during pregnancy
after birth
genetic tests can identify parents who are heterozygous carriers for certain diseases
Common technologies used with fetuses
- Amniocentesis (羊膜穿刺術): extracts samples amniotic fluid
- karyotyping to detect chromosomal abnormalities (e.g. Down syndrome)
- biochemical tests on cultured fetal cells to detect other conditions
- Chorionic villus sampling (絨毛膜絨毛取樣): removes sample of chorionic villus tissue from placenta

Blood tests: (15~20 weeks) helps identify fetuses at risk for birth defects
 Fetal imaging: ultrasound imaging
Ethical concerns:
confidentiality and potential use of genetic testing results
logistics

Variations on Mendel's Laws

Incomplete dominance: intermediate phenotypes

Mendel's pea crossing: complete dominance (offspring had the phenotypes of parents)
Some characters: incomplete dominance (F1 hybrids' phenotypes are between the 2 parental
varieties)
- neither allele is dominant over the other
- expression of both alleles occurs

Example of incomplete dominance in humans: hypercholesterolemia

dangerously high levels of cholesterol occur in blood
heterozygotes have intermediately high cholesterol levels
Many genes have more than two alleles

most genes have more than two alleles

Example: Human ABO blood group phenotypes (Three alleles)
the 4 human blood groups: A, B, AB, O
A, B alleles are both expressed in heterozygous individuals (codominance)

one gene can affect many phenotypic characters

Pleiotropy: when one gene influences multiple characters

- Example: Sickle-cell disease
- affects the type of hemoglobin produced and the shape of red blood cells ----> causes anemia 貧血
& organ damage
- increased resistance to malaria

One character can be influenced by many genes

Polygenic inheritance: one phenotypic character is the additive result of 2 or more genes
 Example: human skin colour

environmental affects on characters

many characters are results of a combination of heredity and environment

Examples:
skin colour (affected by exposure to sunlight)
heart disease & cancer
Identical twins show that traits are affected by genetics & environment

Chromosomal Basis of Inheritance

Chromosome behaviour explains Mendel's laws

Chromosome theory
genes occupy specific loci on chromosomes
chromosomes are segregated and independently assorted during meiosis
Chromosome separation in meiosis in Mendel's laws
- the law of segregation 分離律
- pairs of alleles separate from each other
- depends on separation of homologous chromosomes in anaphase 1
- the law of independent assortment 獨立分配律
- each pair of alleles are sorted independently
- depends on alternative orientation of chromosomes in metaphase 2

Genes on the same chromosome are inherited together

 Bateson and Punnett studied plants that didn't show 9:3:3:1 ratio
Linked genes: located close together on the same chromosome (tend to be inherited together)

Crossing over produces new combinations of alleles

crossing over between homologous chromosomes produces new combinations of alleles

linked genes can be separated
recombination frequency: percentage of recombinant offspring

Geneticists used crossover data to map genes

the greater the distance between two genes on a chromosome ----> more points where crossing over
can occur (higher recombination frequency)
- Recombination frequencies can used to map the relative position of genes on chromosomes (linkage
map)

Sex chromosomes and sex-linked genes

Chromosomes determine sex in many species

Many animals have a pair of sex chromosomes

Humans & other mammals
XY ----> male
XX ----> female
humans have 44 autosomes
all mammals
the Y chromosome has a crucial gene: SRY (for the development of testes)
absence of SRY gene ----> ovaries
other animals
Insects (grasshoppers, roaches...): X-O system
O = absence of a sex chromosome
XX ----> female
XO ----> male
certain fish, butterflies, and birds (Z & W)
 ZZ ----> male
ZW ----> female
some organisms lack sex chromosomes
number of chromosomes (bees)
diploid ----> female
haploid ----> male
environmental temperature (reptiles)
temperature of eggs during specific periods of incubation determines sex
global climate change may impact sex ratio

Sex-linked genes

sex-linked genes are located on sex chromosomes

X-linked genes: genes on X chromosome
X-linked recessive traits (e.g. white eye colour of in fruit flies)

Sex-linked disorders in humans mostly affect males

sex-linked human disorders

cause by recessive alleles
mostly seen in males
recessive sex-linked human disorders:
Haemophilia: excessive bleeding due to lack of some blood clotting proteins
red-green colour blindness
Duchenne muscular dystrophy: progressive weakening of muscles

Y chromosomes provides clues about human male evolution

the Y chromosome provides clues about male evolution

Y chromosomes are passed on intact
mutations in Y chromosomes can reveal recent shared ancestry