CS1204 Transfusion Medicine I - Genetic Principles
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Questions and Answers

What characterizes the cis position in ABO inheritance?

  • Both alleles are AB.
  • Both alleles are O.
  • One allele is AB and the other is O. (correct)
  • One allele is A and the other is B.

Which of the following correctly defines phenotype?

  • The combination of alleles inherited.
  • The observable characteristics of an individual. (correct)
  • The genetic makeup of an individual.
  • The position of genes on a chromosome.

Which term describes an individual with two identical alleles for a specific trait?

  • Heterozygous
  • Autosomal
  • Recessive
  • Homozygous (correct)

What does the term 'allele' refer to?

<p>A variant form of a gene. (A)</p> Signup and view all the answers

What is true about blood group antigens?

<p>Each individual receives a combination from both parents. (A)</p> Signup and view all the answers

What is a chromosome?

<p>The unit of inheritance that carries genes. (D)</p> Signup and view all the answers

Which of the following statements about genes is true?

<p>Genes encode instructions for building proteins. (A)</p> Signup and view all the answers

What does it mean if an organism is homozygous for a trait?

<p>It carries two identical alleles for that trait. (B)</p> Signup and view all the answers

What does the locus refer to in genetics?

<p>The specific location of a gene on a chromosome. (A)</p> Signup and view all the answers

Which term describes contrasting forms of a gene?

<p>Allele (D)</p> Signup and view all the answers

How many chromosomes are present in a human somatic cell?

<p>46 chromosomes (D)</p> Signup and view all the answers

Which of the following describes a phenotype?

<p>The observable traits or characteristics of an organism. (B)</p> Signup and view all the answers

Which term refers to the different forms of a trait that can be passed from parents to offspring?

<p>Allele (A)</p> Signup and view all the answers

What does the term 'phenotype' refer to in the context of ABO blood groups?

<p>The observable expression of inherited traits (A)</p> Signup and view all the answers

Individuals with an AO genotype possess which ABO blood type?

<p>Type A (B)</p> Signup and view all the answers

Which alleles are considered codominant in the ABO blood group system?

<p>A and B (A)</p> Signup and view all the answers

What is the genotype for an individual with blood type O?

<p>OO (A)</p> Signup and view all the answers

Where is the ABO gene located?

<p>On chromosome 9 (B)</p> Signup and view all the answers

What does the term 'genotype' encompass?

<p>The inherited alleles from parents (D)</p> Signup and view all the answers

What is a possible genotype for an individual with blood type AB?

<p>AB (D)</p> Signup and view all the answers

If a child has blood type A, which of the following genotypes could the parents have?

<p>AA and AO (A), AO and OO (C)</p> Signup and view all the answers

What is the basic unit of inheritance for traits such as blood group antigens?

<p>Gene (A)</p> Signup and view all the answers

Which of the following best describes homozygosity?

<p>Identical alleles are inherited at a chromosomal locus (A)</p> Signup and view all the answers

In genetic terms, what does the zygosity refer to?

<p>The similarity or dissimilarity of genes at an allelic position (B)</p> Signup and view all the answers

How are most blood group genes inherited?

<p>Through co-dominant traits (A)</p> Signup and view all the answers

Which statement accurately describes recessive traits?

<p>Expressed only when identical alleles are present (C)</p> Signup and view all the answers

What is an example of a scenario displaying dosage in genetics?

<p>Rh positive expression when homozygous (A)</p> Signup and view all the answers

Which alleles determine an individual's ABO blood type?

<p>A, B, and O (C)</p> Signup and view all the answers

In genetic inheritance, what characteristic is attributed to co-dominance?

<p>Both alleles are expressed equally (D)</p> Signup and view all the answers

What is the genotype for individuals with blood group B?

<p>BB (B)</p> Signup and view all the answers

Which blood group does not have any antigens?

<p>O (A)</p> Signup and view all the answers

What would be the possible blood group genotypes for someone with blood group A?

<p>AA or AO (A)</p> Signup and view all the answers

What is the primary effect of the trans-position in the Rh blood group system?

<p>Depressed D antigen production (A)</p> Signup and view all the answers

Cis and trans positions are specifically referenced for which blood group system?

<p>Rh blood group system (C)</p> Signup and view all the answers

What is a distinguishing feature of individuals with blood group O?

<p>They produce anti-A and anti-B antibodies (C)</p> Signup and view all the answers

What is the mode of inheritance for the O blood group?

<p>Inherit two copies from both parents (C)</p> Signup and view all the answers

What happens to D antigen expression when C is in trans position to D?

<p>It is suppressed (D)</p> Signup and view all the answers

Flashcards

Chromosome

A unit of inheritance carrying genes. Humans have 46 chromosomes, arranged in 23 pairs.

Gene

A segment of DNA that encodes a protein, giving instructions for molecules that help the body function.

Autosome

Non-sex chromosomes. Humans have 22 pairs of autosomes.

DNA

Double helix that carries genetic information.

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Heredity

The passing of traits from parents to offspring through genes.

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Genetics

The scientific study of genes and heredity.

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Human Somatic Cell

Body cell containing 46 chromosomes.

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Trait

Observable characteristics of an organism.

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Locus

The specific location of a gene on a chromosome.

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Allele

A different form of a gene found at a specific locus.

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Homozygous

Having two identical alleles at a specific locus.

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Heterozygous

Having two different alleles at a specific locus.

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Dosage effect

Increased gene expression due to having two identical alleles.

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Dominant allele

An allele whose trait is expressed even if only one copy is present.

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Co-dominant allele

Both alleles are expressed equally, their traits are both seen.

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Recessive allele

An allele whose trait is only expressed with two copies of the same allele.

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ABO Blood Type Inheritance

Inherited through genes on chromosome 9, not influenced by environment.

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Phenotype

Observable blood type (e.g., A, B, AB, O).

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Genotype

Genetic makeup (e.g., AO, AA, BB, OO).

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Codominant Alleles

Both alleles (A and B) are fully expressed if present.

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Recessive Allele

Only expressed if two copies are present (e.g., O allele).

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Blood Type AO

Results in type A blood phenotype.

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Blood Type OO

Results in type O blood phenotype.

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Blood Type AB

Results from inheriting both A and B alleles.

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ABO Blood Groups

A system classifying blood types based on the presence or absence of A and B antigens on red blood cells.

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A/B antigens

Protein markers on red blood cells that determine blood type.

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Blood type O

Blood type with neither A nor B antigens on red blood cells.

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Genotype AA

Two identical A alleles.

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Genotype AB

Having one A allele and one B allele.

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Cis Position

When two genes/alleles are inherited on the same chromosome.

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Trans Position

When two genes/alleles are inherited on different chromosomes.

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Position Effect (Rh)

The influence of the location of a gene on another gene's expression.

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Cis position

Both alleles (variants of a gene) are on the same chromosome.

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Trans position

Both alleles are on different chromosomes.

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Blood type inheritance

The process of passing down blood type traits from parents to offspring.

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Allele

Different versions of a gene.

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Genotype

The genetic makeup of an organism.

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Study Notes

Course Information

  • Course Title: CS1204 Transfusion Medicine I
  • Faculty: Faculty of Health Sciences
  • Diploma: Diploma in Medical Laboratory Technology
  • Date: 27/10/2023
  • Prepared by: Nor Raihan Mohammad Shabani

Topic 3: Genetic Principles in Transfusion Medicine

  • A gene is a segment of DNA that encodes a particular protein
  • Genes contain instructions for building one or more molecules that help the body work
  • Genes are the basic unit of inheritance, including blood group antigens
  • Genes are located in specific places (loci) along chromosomes
  • Chromosomes are the units of inheritance that carry genes
  • A human somatic cell has 46 chromosomes, 22 pairs of autosomes and 1 pair of sex chromosomes.
  • Genetics is the scientific study of genes and heredity
  • Genetic traits are passed from parents to offspring due to changes in DNA sequence
  • Genetic information is carried on double strands of DNA called chromosomes

Lesson Plan

  • Define these terms -Chromosomes -Gene -Locus -Allele -Silent gene -Phenotype -Genotype -Homozygous -Heterozygous -Cis and trans positions -Autosomal -Dominant and recessive

Summary Blood Group Antigens and Possible Genotypes

  • Blood group antigens are inherited characteristics
  • Every person inherits a combination of antigens from their parents

Different Alleles

  • Individuals with an AO genotype have an A phenotype.
  • People with an OO genotype have an O phenotype
  • The A and B alleles are codominant.
  • If someone inherits an A allele from one parent and a B allele from the other, their phenotype is AB.

Blood Groups, Antigens, and Antibodies

  • Blood Type A: A antigen, Anti-B antibodies, possible genotypes AA OR AO.
  • Blood Type B: B antigen, Anti-A antibodies, possible genotype BB OR BO.
  • Blood Type AB: A & B antigens, no antibodies, possible genotype AB.
  • Blood Type O: No antigens, Anti-A and Anti-B antibodies, possible genotype OO.

Zygosity

  • Zygosity describes the similarity or dissimilarity of genes at an allelic position on two homologous chromosomes.
  • Homozygous: Inheritance of identical genes at a chromosomal locus (e.g. KK or kk at the Kell locus)
  • Heterozygous: Inheritance of two different genes at a chromosomal locus (e.g. Kk at the Kell locus)

Dosage

  • A condition where a gene expression is stronger due to homozygosity (e.g. M+N-; Fya+Fyb-)
  • RBC antigen systems that display dosage
  • Rh
  • Lewis
  • MNS
  • Kidd (Jk)
  • Duffy (Fy)

Dominant and Codominant

  • Dominant: The characteristic determined by one chromosome takes precedence over the one on a different chromosome, (e.g. A/O types as A or D/d as D)
  • Codominant: Equal expression of two different inherited alleles in which neither is dominant over the other (e.g. A/B types as AB)
  • In codominance, both alleles are expressed, and their gene products are seen at the phenotypic level.

Recessive and Silent Gene

  • Recessive: the characteristic determined by the allele will be expressed only if the same allele is on the other chromosome. (e.g. O/O or D-negative d/d).
  • Silent gene: A gene that does not produce a detectable product (e.g., O, d, or h gene)

Genetic Inheritance of the ABO Blood Group

  • An individual's ABO blood type is determined by inheritance of one of three alleles (A, B, or O) from each parent
  • ABO blood types are inherited through genes on the long arm of chromosome 9; they don't change due to environmental factors.

9q34

  • Location, or locus, of the ABO gene, which codes for the ABO blood group

Phenotype versus Genotype

  • Phenotype: Result of reaction between red cells and antisera/observable expression of traits (e.g., group A or Rh positive)
  • Genotype: Actual genetic makeup/genetic information for a trait carried on each chromosome (e.g., O/O or A/O).

Position Effect

  • C trans-position effect: The D gene is in trans to the C gene (opposite sides). This can affect amounts of D antigen production. (e.g. Dce/dCe).
  • C cis-position effect: The C and D genes are on the same side/in cis, This can also affect amounts of D antigen production.(e.g. Dce/dce.)

Summary of Blood Groups

  • Blood type A: Possible genotypes AA and AO, A antigen, anti-B antibodies.
  • Blood type B: Possible genotypes BB and BO, B antigen, anti-A antibodies.
  • Blood type AB: Possible genotype AB, A and B antigens, no antibodies.
  • Blood type O: Possible genotype OO, no antigens, Anti-A and anti-B antibodies.

Cis and Trans Position

  • Two genes are inherited on different chromosomes, it's described as a trans position.
  • Two genes are inherited on the same chromosome, it's described as cis position. If C is trans to D, there may be a position effect on the expression (e.g., weakening/depression) of D antigen.

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Genetics in Transfusion Medicine PDF

Description

This quiz explores the genetic principles relevant to transfusion medicine, focusing on the role of genes and chromosomes. It covers topics such as inheritance, genetic traits, and the significance of DNA in blood group antigens. Test your understanding of genetic concepts fundamental to medical laboratory technology.

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