Patterns of Single-Gene

Inheritance
Single-gene traits are often called
mendelian because ,like the
characteristics of garden peas studied
by Gregor Mendel, they occur on
average in fixed proportions among the
offspring of specific types of matings.
• Each gene in a chromosome
pair has a partner at the same
position (or locus) on the
matching chromosome. Each
member of a gene pair is
called an allele. A gene can
have many alleles within a
population but an individual
will have only 2 alleles which
influence a particular trait.
 Conceptions
A genetic locus is a specific position or location
on a chromosome. Frequently locus is used to
refer to a specific gene.
Alleles are alternative forms of a gene, or of
a DNA sequence, at a given locus.

If both alleles at a locus are identical, the

individual is homozygous at that locus; if they
are different, he or she is heterozygous. Such
individuals are called homozygotes or
heterozygotes , respectively.
For many genes, there is a single prevailing
version, present in the majority of individuals,
which geneticists call the wild-type or normal
allele. The other version of the gene are mutant
alleles that differ from the wild-type allele by
mutation, a permanent change in the
nucleotide sequence or arrangement of DNA. If
there are at least two relatively common alleles
at the locus in the population, the locus is said
to exhibit polymorphism .
The genotype is the genetic constitution or
composition of an individual. Genotype also
can refer to the alleles at a specific genetic
locus.
The phenotype is the observed result of the
interaction of the genotype with
environmental factors; more specifically ,the
observable expression of a particular gene
or genes.
Mendelian diseases are autosomal if
they are encoded by genes on one of the
22 pairs of autosomes, or non-sex
chromosomes, and X-linked if encoded
by a mutant gene on the X chromosome.
• Dominant :A gene (allele) which is expressed
clinically in a heterozygous state. In a dominant
disorder only one mutant allele need be present
as it covers up, or masks, the normal allele.

• Recessive :A gene (allele) which is only

expressed clinicaly in the homozygous state. In
a recessive disorder, both genes at a given
locus must be abnormal to manifest the
disorder.
• If the allele is dominant, only 1 copy is required to
express the trait; if recessive then 2 copies.

• Upper case letters are traditionally used to represent

dominant traits, lower case letters for recessive traits.

• Thus for a dominant trait, either AA or Aa will express

the particular characteristic, while for a recessive trait
only aa will express the characteristic. The
heterozygote (Aa) will be a carrier - clinically
unaffected but able to pass the harmful allele to the
offspring
Example:

•Progressive retinal atrophy (PRA) causes

blindness in many breeds. P represents the
dominant allele, and p the recessive allele.
Since PRA is a recessive trait, p is the
affected allele, and P the normal allele.

• The genotypes PP and pp are homozygous.

Individuals with the genotype PP have normal
sight and those with pp are affected.
•Pp is heterozygous. These animal have
normal sight but are carriers. They will pass
the allele for progressive retinal atrophy to
approximately half their offspring.

•Phenotypically, both PP and Pp have normal

sight, but their genotype is different. At this
time, as with most recessive disorders, there is
no way to identify carriers (animals with the
genotype Pp) until affected offspring are born.
Single-gene disorders are characterized by
their patterns of transmission in families. To
establish the pattern of transmission, a usual
first step is to obtain information about the
family history of the patient and to
summarized the details in the form of a
pedigree, a graphical representation of a
family tree, using standard symbols.
Pedigree
Brothers and sisters are called sibs, and a
family of sibs forms a sibship. The entire family
is called a kindred.

Relatives are classified as first-degree

(parents, sibs, and offspring of the
proband); second-degree (grandparenys and
grandchildren, uncles and aunts, nephews
and nieces, and half –sibs); third-degree
(e.g., first cousins), and so forth, depending
on the number of steps(in other words, the
number of meioses) in the pedigree between
the two relatives.
Couples who have one or more ancestors in
commom are consanguineous.
If there is only one affected member in a family,
he or she is an isolated case or, if the disorder
is determined to be duo to new mutation in the
propositus, a sporadic case.
 Basic Pedigrees Structure
• Pedigrees are very similar to
family trees, except pedigrees
study a certain trait within a
family. Every generation is
represented by a Roman
numeral, and each member of
the generation by an Arabic
numeral.
 Analyzing Pedigrees
• The pedigree method consists of an analysis for a
particular trait.
• Usually diagrams or charts are used to attempt to
find patterns of inheritance.
• The first step is to determine whether the gene
being studied is dominant or recessive.
• An important thing to remember is that one can
not determine offhand which individual is a carrier
of a specific trait, until the trait is expressed in
someone.
 Reviewing Mendel's
Laws

An analysis of genetic crosses depends

upon an understanding of Mendel's two
laws.
 A a

A a

The principle of segregation (First Law): The two

members of a gene pair (alleles) segregate
(separate) from each other in the formation of
gametes. Half the gametes carry one allele, and
the other half carry the other allele.
 A
a B b

A B a b A b a B

The principle of independent assortment (Second

Law): Genes for different traits assort
independently of one another in the formation of
gametes.
law of linkage and crossing over:

The hereditary factors were almost always

passed on in units.The number of coupling
groups corresponds to the number of
chromosomes in a haploid set and that
occasional exceptions were caused by the
exchange of chromosomal pieces that
occurred during the pairing of the homologous
chromosomes in meiosis.
Pattern of single-gene inheritance
Single-gene inherence

autochromasom Sex-chromasome

dominant recessive X-linked Y-linked

dominant recessive
Autosomal dominant inheritance
(AD)
•
• 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.
 The 4 criteria for identifying dominant
genes:
• If the trait is dominant, it will be expressed in all generations.
• The trait is passed from the affected parent to about 50% of his/her
children.
• Any parent that does not express the trait does not transmit it to
any of his/her children.
• Both males and females can express and transmit the trait.
Further understanding
A significant proportion of
isolated cases are due to
new mutation .
Types of Autosomal dominant

1. Complete dominant inheritance

2. Incomplete dominance
3. Co- dominant inheritance
4. irregular dominant inheritance
5. delayed dominant inheritance
 1. Complete dominant
inheritance

Completely dominant, Aa and AA are

phenotypically alike.
 Example
hearing loss (HL)
• A person who has a dominant
hearing loss (HL) generally has
one gene for HL and one normal
gene in one pair of genes. In the
diagram the gene for hearing loss
is represented by a D and the
normal gene by a d.
yndactyly type I 2q31~ q37
I 1 2

II 1 2 3 4 5 6 7 8 9 10 11 12

III 1 2 3 4 5 6 7 8 9 10 11 12

Here is an example of
syndactyly in which
several fingers are
fused into one large
digit. The thumb and
forefinger are fused in
this case.
2. Incomplete dominance

Neither allele is dominant over the

other,with heterozygotes expressing an
intermediate phenotype 2.

when we cross two individuals, the

offspring show a characteristic in
between the two parental types.
Example Crossing a red flower with a white flower,
and all the offspring turn up pink.
All the offspring are pink, so we can
assume that each parent was
homozygous. One was homozygous for
red (RR), while the other was homzygous
for white (rr).
Therefore all the F1 offspring are
heterozygous, and have the in between
phenotype (pink).
Crossing of the offspring with each other
will result in an F2 generation with 25%
Red (RR), 50% Pink (Rr), and 25%
White (rr) offspring.
For most relatively rare autosomal dominant
diseases, affected individuals are
heterozygotes. However , when the gene is
sufficiently common, matings between
heterozygotes affected parents resulting in
homozygous affected offspring are seen. In
most cases, affected homozygotes are much
more severely affected than are heterozygotes.
 Achondroplasis
Clinical Presentation:
Short stature. Has mild hypotonia and slow
motor development but eventually has normal
intelligence and motor function. Narrowing of the
foramen magnum can cause hydrocephalus,
and cord compression is another possible
symptom. Most common short limbed dwarf.
Etiology/Pathophysiology:
Disorder of tubular bone growth. Autosomal
dominant.
Homozygous
achondroplasia
are lethal in
infancy.
 Homozygous familial
hypercholesterolemia
have much higher
elevations of
cholesterol and
develop
atherosclerotic
cardiovascular
disease in childhood.

This is an example of FAMILIAL

HYPERCHOLESTEROLEMIA. It is one of the most
common autosomal dominant genetic diseases in the
US, affecting nearly 1 in 500 adults. Note the deposits
of cholesterol and lipid-laden macrophages around the
eyes of this patient. This disease is caused by a defect
in the low-density lipoprotein (LDL) receptor .
 3.Codominant dominance
•Co-dominant inheritance refers to a
pattern of inheritance that the alleles of
some genes are both expressed when
present.
The heterozygotes express both
homozygous phenotypes, rather than
expressing an intermediate phenotype.
 Human ABO blood types

• The heterozygote AB. codominant

alleles ,are both expressed. Blood type AB
individuals produce both A and B
antigens. neither A nor B is dominant
over the other and they are both
dominant over O
Since there are three different alleles, there are a
total of six different genotypes at the human ABO
genetic locus.
genotype antigen on red cell blood type
IAIA 、 IAi A A
IBIB 、 IBi B B
IAIB A 、B AB
ii ─ O
 Marriage of different genotypes ：

IA i × IB i IA IB × ii

IA i IB i IA IB i

IA IB IA i IBi ii IA i IB i
 Blood type
───────────────────────────
parents Children(with) Children(without)
───────────────────────────
A×A A、 O B 、 AB
A×O A、 O B 、 AB
A×B A 、 B 、 AB 、 O ---
A×AB A 、 B 、 AB O
B×B B、 O A 、 AB
B×O B、 O A 、 AB
B×AB A 、 B 、 AB O
AB×O A、 B AB 、 O
AB×AB A 、 B 、 AB O
O×O O A 、 B 、 AB
───────────────────────────
 4.irregular dominant inheritance

 A certain genotype can’t completely express a

corresponding phenotype on some conditions.The express
degree is affected by factors of genes and environment.
 Penetrance refers to the showing degree of a
particular phenotype.
 Complete penetrance refers to the phenomenon that a
particular phenotype does show up in 100% of the
individuals with the responsible genotype.
 Incomplete penetrance refers to the phenomenon that
a particular phenotype does not show up in 100% of the
individuals with the responsible genotype.
polydactyly postaxial (MIM 174200)11q31-q34

I 1 2 3 4

II 1 2 3

III 1 2 3

I 3 is an obligate
heterozygote
 Reason of incomplete penetrance
1.Genes One gene interferes with the expression
of another . We called it modified gene

2.Environment Environment determines the

phenotypic pattern of expression.Siamese cats
and Himalayan rabbits both animals have dark
colored fur on their extremities. This is caused by
an allele that controls pigment production being
able only to function at the lower temperatures of
those extremities.
3. Artificialness Phenylketonuria in
humans is a genetic defect in amino acid
metabolism. It results from an inability to
metabolise excess amounts of the amino
acid phenylalanine. Toxic byproducts of
dietary phenylalanine in affected
individuals lead to brain-damage.
However, this phenotype can be
suppressed if affected infants are
subjected to a diet that is poor in
phenylalanine.
5. delayed dominant inheritance
Not all genetic disorders are congenital; many
are not expressed until later in life, some at a
characteristic age and others at variable ages.
spinocerebellar ataxia type I (MIM 164400) 6p23
42
I 1 2

40 41
II 1 2 3 4 5 6

35 28 24 21
III 1 2 3 4 5 6 7 8 9 10 11 12 13 14

23
IV 1 2 3 4 5 6
Huntington’s chorea
The classic signs of Huntington disease are progressive
chorea, rigidity, and dementia, frequently associated with
seizures. A characteristic atrophy of the caudate nucleus is
seen radiographically. Typically, there is a prodromal phase
of mild psychotic and behavioral symptoms which precedes
frank chorea by up to 10 years.

45
I 1 2

44
41
II 1 2 3 4 5 6

30 42 46
III 1 2 3 4 5 6 7 8 9 10 11

20
IV 1 2

anticipation
Family frequently-occurring colon polypus
(protuberance)
Variable Expressivity
Pleiotropy: Multiple phenotypic effects of a
single gene or gene pair . The term is used
particularly when the effects are not
obviously related.
Mutant genes with pleiotropic effects,
i.e.,affecting several organ systems
and functions, frequently show
variable expressivity. The expressivity
refers to the nature and severity of the
phenotype.
Marfan's syndrome is a disorder of connective
tissue which causes skeletal defects typically
recognized in a tall, lanky person. A person with
Marfan's syndrome may exhibit long limbs and
spider-like fingers, chest abnormalities, curvature
of the spine and a particular set of facial features
including a highly arched palate, and crowded
teeth. The most significant of the defects in the
syndrome are cardiovascular abnormalities, which
may include enlargement (dilatation) of the base of
the aorta.
It affects the connective tissues of the
body, primarily in the skeletal system,
the eye, and the heart. An individual
affected with the Marfan syndrome may
have involvement of only two or all three
major systems, and the severity of the
manifestations may vary widely.
I 1 2

II 1 2 3 4 5

III 1 2 3 4 5

IV 1 2 3
Genetic Instability and Anticipation
It has been observed for several decades that some
dominantly inherited diseases manifest an earlier age
of onset and increasing severity in successive
generations. The most striking example of this
phenomenon, called anticipation, is myotonic
dystrophy.
Anticipation The progressively earlier onset
and increased severity of certain diseases
in successive generations of a family.
Caused by expansion of the number of
triple repeats within or associated with the
gene responsible for the disease.
Myotonic dystrophy is an autosomal dominant
disorder characterized by myotonia, muscular
dystrophy, cataracts, hypogonadism, frontal
balding, and ECG changes.
The discovery that the genetic defect in one form of the
disorder is an amplified trinucleotide repeat in the 3-
prime untranslated region of a protein kinase gene on
chromosome 19 explains many of the unusual features of
the disorder. Severity varies with the number of repeats:
normal individuals have from 5 to 30 repeat copies;
mildly affected persons, from 50 to 80; and severely
affected individuals, 2,000 or more copies. Amplification
is frequently observed after parent-to-child transmission,
but extreme amplifications are not transmitted through
the male line. This explains anticipation (increase in
severity in successive generations) and the occurrence
of the severe congenital form almost exclusively in the
offspring of affected women.
Huntington disease (HD) is inherited as an
autosomal dominant disease that gives rise
to progressive, selective (localized) neural
cell death associated with choreic
movements and dementia. The disease is
associated with increases in the length of a
CAG triplet repeat present in a gene called
'huntingtin' located on chromosome 4p16.3.

A stretch of 10-30 CAG triplets, encoding a

polyglutamine tract, is expanded
approximately two-to fourfold in affected
individuals.
Autosomal Recessive Inheritance (AR)
1.Introduction
Recessive genes can only be expressed in homozygous
(aa) individuals. There are more heterozygous (Aa)
carriers than homozygous (aa) who actually express the
trait. All three genotypes (AA, aa, Aa) are possible
throughout any population.
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.
2. The four criteria for identifying recessive genes:
1) The first appearance of the recessive trait within a
family usually is in the children of the unaffected
parents.
2) 25% of the children will be express trait.
3) Both males and females can express the trait unless
it is a recessive sex linked gene.
4) Ratio of disease in consanguineous marriage is
higher than non-consanguineous marriage.
 Autosomal Recessive Inheritance

There is horizontal inheritance (normal

parents often have more than one affected
child).
Affected individuals usually have unaffected
partners and all their children will be
carriers.

New mutation is almost never a

consideration.
3.Recurrence risk calculation
A consanguineous marriage is said to be
the union between two people, genetically
related, by descent from a common
ancestor.
The degree of consanguinity can be described
by the coefficient of relationship(r), which is
the probability that two persons have
inherited a particular allele from a common
ancestor.
• Relatives may be categorized according to
their genetic "closeness" to the patient:
•
First-degree relatives include the patient's
mother, father, siblings, and children .
(Probability of same gene is 1/2)
Second-degree relatives include grandparents,
aunts, uncles, nieces, nephews, and
grandchildren (1/4)
Third-degree relatives include first cousins
(1/8)
First-degree relatives

1/2×1/2=1/4
1/4 +1/4 =1/2
consanguineous marriages showed
significantly higher rates of still births,
infant mortality and congenital
malformations.

?
(Law of genetic
equilibrium)
Oculocutaneous albinism type 1 (OCA1) is
characterized by reduced synthesis of melanin in the
skin, hair, and eyes, associated with ocular findings
of nystagmus, reduced iris pigment with iris
translucency, reduced retinal pigment, foveal
hypoplasia with significantly reduced visual acuity,
and misrouting of the optic nerves resulting in
alternating strabismus and reduced stereoscopic
vision. Individuals with OCA1A have white hair,
white skin that does not tan, and fully translucent
irises that do not darken with age.
 Albinism Why? High risk

panmixis consanguineous
?

?
• Pop frequency of albinism(q2)=1/10000. q=0.01
• P+q=1 p=0.99 ; 2pq≈1/50

1/50 ×1/50 × 1/4=1/10000; 1/50 × 1/8 × 1/4=1/1600

Recurrence risk caculation in family with patient

2/3 × 1/2× 1/50 × 1/4=1/600

1/3 × 1/3 × 1/4=1/36
Tay-Sachs disease, the prototype
hexosaminidase A deficiency, is characterized
by loss of motor skills beginning between
three and six months of age with progressive
evidence of neurodegeneration, including
seizures, blindness, and eventual total
incapacitation and death, usually before age
four years.
Tay-Sachs diesase
 sickle-cell anemia
Sickle cell anemia is the most common
inherited blood disorder in the United States,
affecting about 72,000 Americans or 1 in 500
African Americans. SCA is characterized by
episodes of pain, chronic hemolytic anemia
and severe infections, usually beginning in
early childhood.

SCA is an autosomal recessive disease

caused by a point mutation in the
hemoglobin beta gene (HBB) found on
chromosome 11p15.4. About 8% of the
African American population are carriers.
A mutation in HBB results in the
production of a structurally
abnormal hemoglobin (Hb),
called HbS. Hb is an oxygen
carrying protein that gives red
blood cells (RBC) their
characteristic color. Under
certain conditions, like low
oxygen levels or high hemoglobin
concentrations, in individuals who
are homozygous for HbS, the
abnormal HbS clusters together,
distorting the RBCs into sickled
shapes. These deformed and rigid
RBCs become trapped within
small blood vessels and block
them, producing pain and
eventually damaging organs.
 Phenylketonuria ( PKU )
A common genetic disorder (1 out of 12,000
births) which results from a deficient enzyme
required for the metabolism of the amino acid
phenylalanine .
Failure to recognize the disorder early in life
results in mental retardation . Many states
require all newborns to be screened for this
disease.
 SEX-LINKED INHERITANCE
In humans, the term sex-linked traits usually refers to
X-linked traits and Y-linked traits.

1. The human X-chromosome is much larger than the Y.

Thus, there are more X-linked than Y-linked traits.
2. Most X-linked genes have no homologous loci on the
Y chromosome.
3. Most genes on the Y chromosome not only have no X
counterparts, but they encode traits found only in
males (e.g. testis- determining factor).
X-linked recessive inheritance
disease ， XR

X-linked dominent inheritance

disease ， XD
 X-linked recessive inheritance disease ， XR

• Genotype and Phenotype

XAXA XAXa XaXa XAY XaY

Marriage types of different genotypes

XAXa × XAY XAXA × Xa Y

XA Xa XA Y XA Xa Y

XA Y Xa Y XA XA XA Xa XA Xa XA Y
X-linked
recessive
inheritance

1) More affected males than affected females (compare q to

q2)
2) Affected males transmit the gene to all daughters, but not
to any of their sons.
3) Affected females must have an affected father and, at
least, a carrier mother ; Affected males are hemizygous.
4) The daughters of an affected male will usually be a carrier
(heterozygote) and thus not show the trait.
5) Half of the sons of carrier females are affected
Hemizygous = A condition where only one copy of a
gene is present in a diploid organism, refers
especially to X-linked genes in the male but also
applies to genes on any chromosome segment that is
deleted on the homologous chromosome.
One normal copy (green x) of a
gene on the X chromosome is
generally sufficient for normal
function. Women who have a
defective gene (red x) on one of
their two X chromosomes are
protected by the normal copy
of the same gene on the second
chromosome. But men lack
this protection, since they have
one X and one Y chromosome.
Each male child of a mother
who carries the defect has a 50
percent risk of inheriting the
faulty gene and the disorder.
Each female child has a 50
percent chance of being a
carrier like her mother
Hemophilia A is a hereditary blood disorder, primarily
affecting males, characterized by a deficiency of the
blood clotting protein known as Factor VIII that results
in abnormal bleeding. Babylonian Jews first described
hemophilia more than 1700 years ago; the disease first
drew widespread public attention when Queen Victoria
transmitted it to several European royal families.
England's Queen Victoria was a carrier for this disease.
The allele was passed to two of her daughters and one
son. Since royal families in Europe commonly
intermarried, the allele spread, and may have
contributed to the downfall of the Russian monarchy
(Czar Nicholas' son Alexei suffered from hemophilia A
inherited from his mother who carried Victoria's
genetic secret).
Mutation of the HEMA gene on the X chromosome
causes Hemophilia A.

The HEMA gene codes for Factor VIII, which is

synthesized mainly in the liver, and is one of many
factors involved in blood coagulation; its loss alone
is enough to cause Hemophilia A even if all the
other coagulation factors are still present.
Treatment of Hemophilia A has progressed rapidly
since the middle of the last century when patients
were infused with plasma or processed plasma
products to replace Factor VIII. HIV
contamination of human blood supplies and the
consequent HIV infection of most hemophiliacs in
the mid-1980s forced the development of alternate
Factor VIII sources for replacement therapy,
including monoclonal antibody purified Factor VIII
and recombinant Factor VIII, both of which are
used in replacement therapies today.
Development of a gene replacement therapy
for Hemophilia A has reached the clinical
trial stage, and results so far have been
encouraging. Investigators are still
evaluating the long-term safety of these
therapies, and it is hoped that a genetic cure
for hemophilia will be generally available in
the future.
Duchenne muscular dystrophy (DMD) is one
of a group of muscular dystrophies
characterized by the enlargement of muscles.
DMD is one of the most prevalent types of
muscular dystrophy and is characterized by
rapid progression of muscle degeneration
that occurs early in life. All are X-linked and
affect mainly males an estimated 1 in 3500
boys worldwide.
The gene for DMD, found on the X chromosome,
encodes a large protein dystrophin. Dystrophin is
required inside muscle cells for structural
support; it is thought to strengthen muscle cells by
anchoring elements of the internal cytoskeleton to
the surface membrane. Without it, the cell
membrane becomes permeable, so that
extracellular components enter the cell, increasing
the internal pressure until the muscle cell
"explodes" and dies. The subsequent immune
response can add to the damage.
pseudohypertrophic muscular dystrophy , DMD
(MIM 310200)Xp21-p21.3

I 1 2

II 1 2 3 4 5 6 7

III 1 2 3 4 5 6 7 8 9
 Colorblind
• Causes and Risks:
Colorblindness is an inherited condition that is sex linked
recessive. As a result, very few women are colorblind but
approximately 1 in 10 men has some degree of colorblindness.
• The most common form of colorblindness is red-green and has
a wide range of variability within this group from very mild to
extreme. The second most common form is blue-yellow, and a
red-green deficit is almost always associated with this form.
The most severe form of colorblindness is achromatopsia, the
inability to see any color, and is often associated with other
problems such as amblyopia ( lazy eye ), nystagmus ,
photosensitivity, and extremely poor vision .
( 二） X-linked dominent inheritance disease ， XD
1. Among parants of patient, there must be one with
disease . Continuous pass
2. Among offsprings of affected males ， daughters
are affected ， sons are normal. Affected males
transmit the trait to all their daughters
3. Among offsprings of affected females ， half of
daughes or sons are affected. Affected females transmit
to half of their children.
4. For rare phenotypes,
affected females are about
twice as common as affected
males, but affected females
typically have milder
expression of the phenotype.
Anti-vitamine D ricket, XD
•bone pain or tenderness (arms, legs,
spine, pelvis )
•skeletal deformities bowlegs ;
forward projection of the breastbone
(pigeon chest) ; "bumps" in the rib
cage ("rachitic rosary") ;
asymmetrical or odd-shaped skull ;
spine deformities (spine curves
abnormally, including scoliosis or
kyphosis) ; pelvic deformities
•increased tendency toward bone
fractures
 Criss-cross inheritance
Fathers pass X-linked alleles to only and all of their
daughters.
1. Males receive their X chromosome only from their mothers.
2. Fathers cannot, therefore, pass sex-linked traits to their sons.

Mothers can pass sex-linked alleles to both sons and

daughters.
1. Females receive two X-chromosomes, one from each parent.
2. Mothers pass on one X-chromosome (either the maternal or
paternal homologue) to every daughter and son.
 Y-Linked Inheritanc

• A small number of genes have been mapped

to the Y chromosome.
• Genes on the Y chromosome pass from
father to sons only; no daughters of affected
males can inherit the gene.
The Y chromosome contains genes associated with

 height - compare XY and XYY

 sperm maturation - some cases of infertility are due

to Y-linked genes (the DAZ gene) , azoosperm

 male determination
 hairs in ear channel
I 1 2

II 1 2 3 4 5

III 1 2 3 4 5 6
hairs in
ear
channel
Sex-Limited and Sex-Influenced Traits

Heterogeneity
Sex-Limited and Sex-Influenced Traits
Sex-limited traits = Traits which appear
exclusively in one sex, but are
determined by autosomal genes found in
both sexes. Though only one sex
normally expresses the trait, both sexes
transmit the genes.
For example, Hen-feathering (HH, Hh)
and cock-feathering (hh) in chicken. The
hh genotype causes cock feathering only
in males, not in females.
•Sex-influenced traits = Traits with sex-
dependent variation in penetrance and
expressivity of autosomal genes.
Penetrance or expressivity of autosomal
genes may be sex- dependent.
For example, a form of male baldness
is expressed in the presence of only one
copy of the allele; whereas, a woman must be
homozygous for the allele in order for it to be
expressed.
---------Penetrance and expressivity of both
sex-limited and sex-influence traits is
influenced by the individual's hormonal
condition.
 Heterogeneity

• Phenotype is defined as the appearance of a

trait. Genotype is defined as the combination
of alleles or genes. Generally, the genotype
determines the phenotype.

• Heterogeneity simply means diversity.

Genetic Heterogeneity

The majority of inherited human diseases

exhibit genetic heterogeneity. Genetic
heterogeneity means that different mutations
can cause an identical or similar phenotype.
Genetic heterogeneity may be the result of
different mutations at the same locus (allelic
heterogeneity ), mutations at different loci
(locus heterogeneity), or both.