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B.B Genetics in Transfusion Medicine

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Genetics and Molecular

Biology: Their role in


Immunohematology.
Yasser Hassanein,
D.H.Sc.,M.Sc., MLS (ASCP)CM
L(1)
Generalities
● Gene:
● Basic unit of heredity transferred from a
parent to offspring held to determine
some characteristic of offspring
sequence of nucleotides forming part of
the chromosome
● Genome: complete set of chromosomes
and genes inherited as a unit from one
parent
● Locus: the specific position of a gene on a
chromosome
DNA
● Chromosomes are
composed of long
linear strands of
DNA tightly coiled
around proteins
called histones
● 23 pairs
● 22 autosomal
(homologous)
● 1 sex (non-
homologous)
Mitosis
● Cell division by
somatic cells in
which the body
grows and cells are
replaced
● Diploid cells: 2N,
reproduced by
mitosis making
daughter cells
Meiosis
● Sex cell division
● Ova and sperm
are haploid (1N)
● Ensures that when
zygote formed –
back to diploid
cells (2N)
Definitions
● Phenotype: detectable expression of the
genotype (hair color) not inherited depend on
genotype and environment (A, B, AB, O)
● Genotype: the genetic makeup of individual given
by parents through reproduction (AA, AO, BB,
BO, AB, OO)
● Allele: one or two or more alternative form of a
gene arise by mutation found at some place on
the chromosome
● Homozygous: individual has identical alleles at a
locus. Genotype may be SS or AA
● Heterozygous: individual has different alleles at a
locus. Sickle cell trait (AS)
Population Genetics

●Gene Linkage: genetic traits inherited together


●Crossing-over: the exchange of materials between
homologous chromosomes result in recombinant
chromosomes
●Gene deletion: is a mutation which part of the
chromosome or sequence of DNA is missing (loss of
genetic material)
●Gene mutation: permanent change of the
nucleotide sequence of the genome of an organism,
virus,…
Population Genetics
● Trait: a distinguishing characteristic
especially of one’s personal
● Codominant: the pattern of inheritance
most frequently expressed by blood
groups genes
● Recessive : inheritable characteristic by
genes expressed only when inherited from
both parents
● Amorphic: a gene doesn’t produce any
product.
Population genetics
● Autosomal dominant: a gene on one of
the non-sex chromosome that is always
expressed even if one copy present.
● Autosomal recessive: genetic condition
appears only if individual have recessive
two copies of autosomal gene.
● X-linked dominant: genetic inheritance by
which dominant gene is carried on X-
chromosome (less common)
● X-linked recessive: mutation on X-
chromosome cause 1 x in male and 2 x in
Autosomal Dominant
Autosomal Recessive
X-linked dominant
X-linked recessive
Examples:

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