24. Blood groups and pedigrees Flashcards

1
Q

What are the two most important systems for blood typing?

A

ABO and Rhesus

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2
Q

What is an antigen?

A

Any molecule which induces a immune response is called na antigen

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3
Q

What are the antigens on RBC?

A

The antigen is a glycoprotein embedded in the red blood cell membrane

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4
Q

Where is the gene located for ABO blood group?

A

One gene locus on chromosome 9

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5
Q

What is the inheritance pattern for each of the alleles?

A

A and B are codominant while A,B is dominant to O

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6
Q

What is the Bombay phenotype?

A

-If you are homozygous recessive for hh then you will not express the allele at the ABO locus - dominant epistasis

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7
Q

How does Bombay phenotype affect blood transfusion?

A

People with Bombay phenotype produce antibody H, antibody A and antibody B, so they can only receive good from another Bombay phenotype

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8
Q

If you have type A blood what antigens and antibodies do you have?

A

You have antigen A present and anti-B antibody present

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9
Q

If If you have type B blood what antigens and antibodies do you have?

A

You have antigen B present and anti-A antibody present

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10
Q

If you have type AB blood what antigens and antibodies do you have?

A

You have A and B antigen present. and no antibodies

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11
Q

If you have type O blood what antigens and antibodies do you have?

A

You have no antigens but both anti A and anti B antibodies

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12
Q

What determines which blood can be transfused?

A
  • Key factor is antigen on the surface of the RBC of the donor
  • Incoming antibody does not impact
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13
Q

Which ones are the universal donors and recipient?

A

Type O is the universal donor and Type AB is the universal recipient

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14
Q

What does the secretor locus determine?

A

If you are a secretor (Have Se allele) then you have water soluble ABH antigens in your secretions
- One locus on chromosome 19 with 2 alleles Se/se

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15
Q

What is the MN system?

A
  • One gene on chromosome 4 with 2 alleles LM and LN

- Codominance telling you what antigens on the surface of the RBC

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16
Q

What is the Rhesus system?

A
  • Chromosome 1 with two alleles, D/d

- Rhesus positive if you have the D allele

17
Q

What happens if you have the D allele?

A

Presence of the D allele results in antigen D on the surface of red blood cells

18
Q

What antibodies are present in the rhesus system?

A

There are no naturally occurring D antibodies in the blood but anti D antibodies will be produced in response to the D antigen

19
Q

What does sensitisation involve for Rhesus?

A
  • First transfusion of Rh+ to Rh- not a problem usually
  • Person produces anti-D antibodies in response to D antigen and becomes sensitised
  • Next contact with Rh+ blood can be fatal
20
Q

What is Haemolytic disease of the newborn? HDN

A
  • Erythroblastosis fetalis
  • During pregnancy and birth fatal rbcs may enter mother’s body and antibodies are produced
  • D antibodies cross placenta and agglutinate fatal rbc
21
Q

How can haemolytic disease of the newborn be treated?

A
  • Rhogam is given to Rh- women during and after pregnancy.
  • Rhogam contains antibodies to the rh D antigen. These antibodies will destroy any red blood cells from the baby that have entered the mother’s blood
22
Q

What is the characteristic of recessive inheritance on a pedigree?

A

If the trait skips a generation

- Unaffected parents have an affected child

23
Q

What is the characteristics of an x linked recessive inheritance?

A
  • Trait can skip generations
  • More males affected than females
  • No father to son transmission
  • Affected female has an affected father
  • Affected female will have all affected sons
24
Q

What is the characteristics of autosomal dominant inheritance?

A
  • All affected individuals have at least one affected parent
  • Once trait disappears from a branch it does not reappear
  • Around equal numbers of each sex affected
25
Q

What are the characteristics for x linked dominant?

A
  • Male with trait must passes it on to daughters only
  • Affected female can pass it on to both sons and daughters
  • Affected person must have at least 1 affected parent
  • If a trait disappears from a branch it does not reappear
  • More affected females than males
26
Q

What is genetic heterogeneity?

A

A phenotype can be the result of mutation in different genes
- Same phenotype but due to different genes