Genetics Basic Inheritance

Basic Inheritance
Allele = represents the characteristics for a trait.
Dominant phenotype = the characteristics that are expressed in the individual.
Recessive phenotype = usually hidden type of phenotype. Individual must carry both recessive
alleles for the recessive characteristics to express.

 Punnet square on the exam!

Dominant allele = shows the dominant phenotype.

Recessive allele = shows the recessive phenotype.
Homozygote genotype = individual contains both dominant alleles AA.
Heterozygote genotype = individual contains both recessive alleles aa.
Genotype = is not observable and does express the homozygote or heterozygote.
Homozygote = express only one type of phenotype (allele). AA or aa.
Heterozygote = express the mix of the dominant and recessive alleles Aa.
Locus = a specific site in the gene that expresses only one characteristics for example, hair
color.
Loci = two or more different specific sites in the gene that gives characteristics to more than
one characteristic for example, an individual with a certain hair color and eyes color different.
Peas = 9:3:3:1
Genotype = is a set of genes in our DNA which is responsible for a particular trait.
Genes= of different loci are transmitted independently.
Proband = a person who’s pedigree is being studied. The proband (= index case, propositum or
proposa) is represented by an arrow in the pedigree map.

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Consanguinity = marriage between family. Relationships between shared blood. Ex. Father,
mom, uncles, aunts, cousins and siblings.

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Autosomal dominant inheritance = observable in 1/200 individuals. Unaffected parent +

affected heterozygous parent is the most common. The affected parent gender does not
matter. At least one allele for the phenotype will show the disease. Both sexes are affected the
same and can pass the disease to their offspring. Autosomal diseases does not skip generations
and is a type of vertical transmission.

Reoccurrence risk = something that happens again. Represents the possibility of the same risk
of acquiring the disease as the parent.
A – normal
a- mutant
In this case the alleles that are affected is the one that carries that mutant allele. The mutant
allele can be A or a.

AA= normal
Aa = Heterozygote ( one affected allele). Affected because they have a least one phenotype
that is affected.
aa= Affected.
* All A or a can be a mutated alleles.
In this example there is a* allele that is mutated
All offspring carrying the a* are affected.
Type a a
A Aa Aa
a aa aa

A – normal 50% of individuals are affected

a *– mutant 50% of individuals are affected.

Type A a
A AA Aa
a Aa aa Homozygote and heterozygote for the mutant allele shows that you
are affected.

For example of diasease: Familial hypercholesteremia.

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Autosomal Recessive Inheritance = Recessive allele causes the disease. This type of disease is
seen in consanguinity. The carriers are heterozygotes and the affected are the homozygous
recessive. Homozygous dominant is not affected. Carries ( heterozygotes) can pass the mutant
gene to their offspring. This is a type of horizontal transmission.

A = normal
a= recessive

Type A a AA = 25% NOT AFFECTED * All A alleles are affected.

Aa = 50% CARRIERS
A AA Aa aa = 25 % AFFECTED

a Aa aa

Type A a

A AA Aa

a Aa aa

Environment = modifies the phenotype and modifiers genes will involve in the degradation of
the phenotype. Conditions of the environment are sometimes required for the development of
the environment. For example, Type 1 diabetes autoimmune – monogenic but some conditions
of the environment are required such as stress.
Modifier genes = genes that modifies the effect of the mutation in another gene. For example,
an mutation in the ApoB gene will cause hypercholesteremia and another mutation in another
gene related to lipids protects from the effect of the mutation in the Apo B gene. This is a type
of gained of function.
Locus heterogeneity = different mutations in different genes that produces the same disease.
Allelic heterogeneity= only one gene with different mutations.
Pleiotropy = affections in one specific gene will produced more than one phenotype. Two genes
affects one type of characteristic. One affected gene that gives rise to two different types of
diseases for example, high cholesterol and high blood pressure.