Mendel’s Postulates

1. A trait is governed by two different alleles and an individual contains one of three possible combinations (AA, Aa,
aa)
2. One allele is dominant over the other (A>a)
3. The two alleles segregate randomly during gamete formation so that each gamete has a 50% chance of receiving
one allele or the other
4. Two pairs of alleles segregate independently of each other. (Note: this is not entirely true in non-Mendelian
genetics (concept of linked genes)

Disease inheritance:
A. Autosomal recessive disorder – caused by a mutation in an allele in one of the autosomes, 2 copies of the
defective allele are required for the disease to manifest. Probability of developing the disease is equal in both
sexes. Ex. Tay-Sach’s disease

Genotype Gametes produced

AA all with normal allele
Aa 50% with normal, 50% with defective allele
aa all with defective allele

Cross Offspring Offspring

Genotype (Probability) Phenotype
AA x aa 100% Aa All normal
Aa x Aa 50% Aa, 75% normal
25% AA 25% w/ disease
25% aa
Aa x aa 50% Aa 50% normal
50% aa 50% w/ disease
Aa x AA 50% AA All normal
50% Aa
Note: Since the genotype ratios are only probabilities, the actual genotypes of the offspring may not correspond with the
expected resul. For example, all the offspring from a heterozygote cross (both Aa) could be homozygous recessive (all
aa), even if this result is highly unlikely.

B. Autosomal dominant disorder – one copy of a defective allele is enough to cause the disease. Ex. Huntington’s
disease

C. Sex-linked (X-linked) recessive disorder – defective allele resides in one of the sex chromosomes, usually in the X
chromosome. Thus, males are more likely to be affected than females because only one copy of the defective
allele is needed in order for the disease to manifest whereas females would need two defective alleles to develop
the disease.

Cross Offspring Genotype Offspring

(Probability) Phenotype
X* Y x XX 50% X* X All daughters normal but are carriers
50% X Y All sons normal
XY x X* X 50% X* Y All sons affected
25% X* X All daughters normal but 50% are carriers
25% X X
XY x X* X* 50% X* Y All sons affected
50% X* X All daughters normal but are carriers
X* Y x X* X 50% X* Y All sons affected
25% X* X 50% of daughters normal but carriers
25% X* X* 50% of daughters affected
X* Y x X* X* 50% X* Y All sons and daughters are affected
50% X* X*

Examples of X-linked disorders

Condtition Characteristics
red-green color blindness Insensitivity to red or green light
Fabry’s disease Deficiency of galactosidase A; heart and kidney defects, early death
G-6-PD deficiency (alam nyo na ‘to )
Hemophilia A Deficiency of clotting factor VIII
Hemophilia B Deficiency of clotting factor IX
Hunter syndrome Mucopolysaccaride storage disease; short stature, claw-like fingers
Ichthyosis Deficiency of steroid sulfatase enzyme; scaly dry skin on extremities
Lesch-Nyhan syndrome Deficiency of HGPRTase enzyme; motor and mental retardation
Duchene Muscular Dystrophy Deficiency of dystrophin protein; gradual degeneration of muscle tissue
 D. X-linked Dominant disorder – Affects offspring of both sexes if at least one parent is affected
• If mother is heterozygote, 50% of her sons and daughters are affected
• If father has disease, all offspring will have it
• If mother is homozygote, all offspring will have the disorder

E. Disorders due to Chromosomal Abnormalities

• Autosomal disorders
- due to alterations in number (aneuploidy) – trisomy, monosomy(lethal in utero)
- due to alterations in structure – deletion, translocation, formation of ring chromosome

Disorder Defect Probability Characteristics

Alterations in number
Down’s Trisomy 21 1.5/1000  Mental retardation
Syndrome  Abnormal fascies ( epicanthal folds, broad tongue, widely spaced
eyes, upturned snub nose)
 Increased frequency of congenital heart disease (SD and PDA)
 Simian crease; change in dermal ridge patterns of hands and feet
 Associated with late maternal age

Patau syndrome Trisomy 13 0.1/1000  Holoprosencephaly- grossly abnormal face and a poorly developed
brain
 Eye defects – micropthalmia, anopthalmia, coloboma
 Congenital heart defects
 Severely mentally retarded
 Death usually at 3 months of age

Edward’s Trisomy 18 0.2/1000

syndrome
 Poorly developed lower jaw (micrognathia), abnormal ears,
triangular face
 Flexion deformities of wrists and crossed over fingers
 Severe congenital heart disease
 Mental retardation
 Death usually at 2 months of age

Alterations in structure
Cri-du-chat Deletion at  Peculiar cry (meowing of a cat) due to softening of larynx
syndrome short arm of chr.5  Hypertonicity and peculiar fascies
 Mental retardation
Wolf’s sydrome Deletion at  Facial asymmetry, micrognathia
short arm of chr.4  Mental retardation
 Hypotonicity
 Hypospadias
 Seizures
Angelman Microdeletion in on long arm of  Mentally retarded
syndrome maternal chr. 15  Poor motor development
 Bouts of unprovoked, prolonged laughter
Prader-Willi Microdeletion in on long arm of  Hypotonia
syndrome paternal chr. 15  Obesity
 Mental retardation
 Hypogonadism and cryptochidism

• Defects involving non-disjunction of the sex chromosomes during gamete formation

Condition Karyotype Characteristics

Klinefelter syndrome 47, XXY • Phenotypically male
• Tall stature, long arms and legs, large hands and feet
• Sterility, testicular atrophy, hyalinization of seminiferous tubules
• Gynecomastia
• Intelligence often below normal
Turner syndrome 45, X • Phenotypically female
• Short stature
• Absence of ovaries (gonadal dysgenesis)
• Webbed neck, broad neck with widely-spaced nipples
• Intelligence usually normal
Triple X/ Poly-X syndrome 47, XXX or more • Phenotypically female
• Infantile with scanty menses
• Mental retardation
XYY 47, XYY • Phenotypically male
• Has been associated with violent, criminal, or antisocial behavior