Mendelian Genetics

in Humans

Mutaz Amin
 Reminder..

1. Law of Dominance and

Recessivess
One allele in a pair may mask the effect
of the other
2. Law of Segregation
The two alleles for a characteristic
separate during the formation of
eggs and sperm
3. Law of Independent
Assortment
The alleles for different characteristics
are distributed to reproductive
cells independently.
Mendelian inheritance in humans

• Most human traits like skin color,

height, weight and intelligence are
caused by more than one gene
(polygenic).

• However some human traits are

monogenic (or thought to be).
Tongue Rolling
Earlobes
Widow’s Peak
Hitchhiker’s Thumb
Inherited disorders
Inherited disorders are diseases that are
transmitted from one generation to another.

Genetic disorders are diseases caused by

mutations in specific genes.

If mutations occurred in germ line cells it will be

an inherited disease.
Inherited disorders are classified into

• 1. Chromosomal diseases: occur when the

entire chromosome, or large segments of a
chromosome, is missing, duplicated or otherwise
altered. Down Syndrome is a prominent example
of a chromosomal abnormality.
• 2. Single-gene disorders: occur when an
alteration occurs in a gene causing one gene to
stop working. An example of a single gene
disorder is sickle-cell anaemia.
• 3. Multifactorial disorders: occur as the
result of mutations in multiple genes, frequently
coupled with environmental causes. An example
of a multifactorial disorder is diabetes.
• 4. Mitochondrial disorders: are rare
disorders caused by mutations in non-
chromosomal DNA located within the
mitochondria. These disorders usually affect any
part of the body including the brain and the
muscles.
Single gene disorders

• Autosomal diseases:
- Autosomal recessive.
- Autosomal dominant.

• Sex-linked diseases:
- X-liked recessive.
- X-linked dominant.
- Y-linked.
Autosomal recessive
• If dominant allele is present on the autosome,
then the individual will not express the trait. In
order to express the trait, two recessive alleles
must be present.

• A = dominant a = recessive
• The genotype of an individual with an autosomal
recessive disease:

aa

• The genotype of an individual without the autosomal

recessive disease:

AA or Aa
• Heterozygotes are Carriers with a normal
phenotype.
• Most affected children have normal parents. (Aa
x Aa)
• Two affected parents will always produce an
affected child. (aa x aa)
• Close relatives who reproduce are more likely to
have affected children.

• Both males and females are affected with equal

frequency.

• Pedigrees show both male and female carriers.

Characteristics of AR pedigree

• Skips generations.

• Males and females equally likely to be affected.

• Children of carrier parents have 25% of being

affected.
Examples for AR
• Congenital Deafness
• Sickle Cell anemia
• Albinism
• Phenylketoneuria (PKU)
• Galactosemia
• Cystic fibrosis
• Tay-Sachs disease
Autosomal dominant
• If dominant allele is present on the autosome,
then the individual will express the trait.

• A = dominant a = recessive
• The genotype of an individual with an autosomal
dominant trait:

AA and Aa (Heterozygotes are affected)

• The genotype of an individual without the autosomal

dominant trait:

aa
• Heterozygotes are affected.

• Affected children usually have affected parents.

• Two affected parents can produce an unaffected

child. (Aa x Aa).
• Two unaffected parents will not produce affected
children. (aa x aa)

• Both males and females are affected with equal

frequency.

• Pedigrees show no Carriers.

Characteristics of AD pedigree

• Vertical pattern: multiple generations affected.

• Males and females equally likely to be affected.

• No carriers.
• Each child of an affected individual has a 50%
chance to be affected.

• Unaffected individuals do pass on the gene.

• Every affected child has an affected parent

(unless…?).
Penetrance
• Penetrance refers to the proportion of people
with a particular genetic change who exhibit
signs and symptoms of a genetic disorder. If
some people with the mutation do not develop
features of the disorder, the condition is said to
have reduced (or incomplete) penetrance.
• For example, many people with a mutation in
the BRCA1 or BRCA2 gene will develop cancer
during their lifetime, but some people will not.
Causes
• Reduced penetrance and is probably caused by a
combination of genetic, environmental, and
lifestyle factors, most of which have not been
identified.

• Makes counseling difficult.

Examples for AD
• Dwarfism
• Polydactyly and Syndactyly
• Hereditary Edema
• Huntington’s Disease
• Neurofibromatosis
• Familial hypercholestrolemia
• Progeria
Why are some diseases recessive and others
dominant?

• Unclear.

• Structural vs catalytic

• Allelic dysfunction.