BASIC GENETICS FOR BLOOD BANKERS

GENOTYPE

- the genetic makeup of a cell, an organism, or an individual (i.e, the specific allele makeup of the
individual usually with reference to a specific character under consideration.

PHENOTYPE

- it is defined as an organisms expressed physical traits. Phenotype is determined by an

individuals genotype and expressed genes, random genetic variation and environmental
influences.

MENDEL’S LAW OF INHERITANCE

1. One of two principles of heredity first formulated by Gregor Mendel, founded on his
experiements wih pea plants and stating that the members of a pair of homologous
chromosomes segregate during meiosis and are distributed to different gametes. Also called law
ug segregation.

HARDY-WEINBERG PRINCIPLE

o Formula: p = q = 1
p equals the gene frequency of the dominant allele
q equals the gene frequency of the recessive allele
o p2 + 2pq+ q2 = 1
in this equation p2 is the predicted frequency of homozygous dominant (AA) people in a
population. 2pq is the predicted frequency of heterozygous (Aa) people, and q2 is the
predicted frequency of homozygous recessive (aa) ones.

CRITERIA FOR USE OF THE HARDY-WEINBERG FORMULA

 Population studied must be large

 Mating among all individuals must be random
 Mutations must not occur in parents or offspring
 No migration, differential fertility or mortality of genotypes studied

INHERITANCE PATTERNS

 It trace the transmission of genetically encoded traits, conditions or diseases to offspring.

 There are four types of Mendelian inheritance patterns:
Autosomal dominant
Autosomal recessive
X-linked recessive
X-linked dominant
AUTOSOMAL DOMINANT

- Dominant conditions are expressed in individuals who have just one copy of the mutant allele.
- Affected males and females have an equal probability of passing on the trait to offspring.
Affected individuals have one normal copy of the gene and one mutant copy of the gene thus
each offspring has a 50% chance on inheriting the mutant allele.

Autosomal dominant conditions:

 Huntington Diseasae
 a condroplasia (short-limbed dwarfism)
 polycystic kidney disease

AUTOSOMAL RECESSIVE

- Recessive conditions are clinically manifest only when an individual has two copies of the
mutant allele.
- When just one copy of the mutant allele is present, an individual is a carrier of the mutation, but
does not develop the condition.
- Females and males are affected equally by traits transmitted by autosomal recessive
inheritance. When two carriers mate, each child has a 25% chance of being homozygous wild
type (unaffected): a mutant (affected): or a 50% chance of being heterozygous (unaffected
carrier).

Autosomal recessive diseases:

 Cystic fibrosis
 Tay-Sachs
 hemochromatosis
 phenylketonuria (PKU)