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Genetic Principles in Blood

Banking

Course Facilitator
School of Medical Technology
Emilio Aguinaldo College - Cavite

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Genetic Terminology

 Genes are units of inheritance that encode for

certain traits or visible characteristics
 Genetic information is carried on double strands
of DNA known as chromosomes
 Chromosomes are found within the nucleus
 Humans have 23 pairs of chromosomes: 22 pairs
of autosomes and 1 pair of sex chromosomes

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Phenotype

• Serologic testing determines the presence or

absence of antigens on red cells
• The phenotype is the physical expression of
inherited genes
• More specifically, the antigens found on red cells

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Genotype

• The actual genes inherited from each parent

• Can be inferred only from the phenotype
• Family studies are required to determine the actual
genotype
• Predicting the genotype from a phenotype is
important in paternity studies or when
determining a fetus’ probable phenotype

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Mendelian Laws

• Independent segregation - refers to the

transmission of a trait between generations in a
predictable fashion

• Independent assortment - genes located on

different chromosomes are inherited separately
and expressed discreetly from one another.

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Pedigree Charts

• Examination of family history

• Allows the important elements of patterns to
become more visibly apparent
• Can illustrate the difference between genotype and
phenotype

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Punnett Squares

• A Punnett square illustrates the

probabilities of phenotypes from
known or inferred genotypes
• Portrays the potential offspring’s
phenotypes or parent’s probable
genotype

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Genes, Alleles, and Polymorphism

• Genes are found in specific locations called genetic

loci
• Several different forms of a gene called alleles may
exist in each locus
• For example A, B, and O are alleles on the ABO
gene
• The term polymorphic refers to a genetic system
that expresses two or more phenotypes

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Inheritance Patterns
• In most cases, blood group antigens are expressed
as codominant or the equal expression of both
inherited alleles
• Recessive or dominant inheritance patterns are
uncommon
• Amorphic genes do not express any detectable
product

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Autosomal—inherited on one of the 22 pairs of autosomal chromosomes

Sex-linked—inherited on the X chromosome

Autosomal dominant—the trait will be expressed whenever the allele is
present; found in males and females with the same frequency
Autosomal recessive—the trait will only be expressed when the allele is
present in the homozygous state; parents may be carriers and not express the
trait
Sex-linked dominant—trait that will be expressed when it is passed from
father to daughter; no father to son transmission
Sex-linked recessive—trait is expressed almost exclusively in males; males will
inherit this trait from their female parent; hemophilia A is inherited in this
manner
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Heterozygosity and Homozygosity

• Homozygous expression means that both parents

contributed the same gene, giving a double dose of
antigen
• This double dose of antigen in some cases can
result in stronger red cell antigen, called dosage
effect
• Hetrozygosity refers to different blood system
alleles from each parent

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Red Blood Cell Antigen Systems Displaying

Dosage
• Rh
• Lewis
• MNS
• Kidd (Jk)
• Duffy (Fy)

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Gene Interactions

• Cis - When two genes are inherited on the same

chromosomes

• Trans - when inherited on different chromosomes

• Steric hindrance - steric arrangement of two genes

may create a weakened expression of one of the
gene products

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Gene Interactions

• Linked – when two genes are inherited together

because they are very close on a chromosome

• Haplotype – linked set of genes inherited together

because of their close proximity on a chromosome

• Crossing over – exchange of genetic material

during meiosis after the chromosome pairs have
replicated

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Gene Frequency
• The Hardy-Weinberg law
• Statistical formulas used to estimate the frequency
of genetic diseases
• Establish probability tables for forensic and
paternity calculations

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Parentage Testing

• Red cell and human leukocyte antigens are easily

identifiable and follow Mendelian laws of
inheritance
• Useful in paternity analysis
• Even though molecular methods are being used
more frequently, blood groups are still very useful

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Reference:
Howard, P.R. (2017). Basic and applied concepts of blood banking and transfusion practices.

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