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Transfusion > TRANS LECTURE 3 > Flashcards

TRANS LECTURE 3 Flashcards

1
Q

What are alleles?

A

Alleles are different forms of genes found at each locus on the chromosomes.

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2
Q

What is the definition of a gene?

A

A gene is a basic unit of inheritance on a chromosome.

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3
Q

Define locus.

A

A locus is the site at which a gene is located on a chromosome.

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4
Q

What does it mean if allelic genes are identical?

A

When allelic genes are identical, they are said to be homozygous for that characteristic or factor.

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5
Q

Give an example of homozygous genes.

A

KK, CC, and EE are examples of homozygous genes.

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6
Q

Define heterozygous genes.

A

Heterozygous genes are allelic genes that differ from each other.

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7
Q

Provide an example of heterozygous genes.

A

Kk, Cc, and Ee are examples of heterozygous genes.

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8
Q

What is the definition of a genome?

A

A genome refers to the full complement of genes.

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9
Q

What does polymorphic mean in the context of genes?

A

Polymorphic refers to having two or more alleles at a given locus.

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10
Q

Which blood group system is more polymorphic?

A

The Rh system has more possibility to be polymorphic.

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11
Q

What are antithetical partners in the context of alleles?

A

Antithetical partners are opposite antigens encoded at the same locus.

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12
Q

Give an example of antithetical partners.

A

Fya and Fyb antigens, as well as K and k antigens, are examples of antithetical partners.

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13
Q

What is the definition of homozygous?

A

Homozygous refers to having identical alleles at a given locus on a pair of chromosomes.

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14
Q

Define heterozygous.

A

Heterozygous refers to having different alleles at a given locus on a pair of chromosomes.

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15
Q

How are most blood group antigens inherited?

A

Most blood group antigens are inherited co-dominantly, resulting in equal expression of both inherited alleles.

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16
Q

Are recessive or dominant inheritance patterns common in blood group system genetics?

A

No, recessive or dominant inheritance patterns are not common in blood group system genetics.

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17
Q

What is the concept of independent segregation?

A

Independent segregation refers to the passing of one gene from each parent to the offspring.

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18
Q

Explain the concept of independent assortment.

A

Independent assortment refers to the random behavior of genes on separate chromosomes during meiosis, resulting in a mixture of genetic material in the offspring.

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19
Q

Define homozygosity.

A

Homozygosity refers to a genotype made up of identical genes at a given locus, such as AA, BB, or OO.

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20
Q

What is heterozygosity?

A

Heterozygosity refers to the inheritance of different alleles from each parent, such as AO, BO, or AB.

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21
Q

What is dosage effect?

A

Dosage effect refers to the stronger agglutination demonstrated by certain antigens when expressed homozygously.

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22
Q

Give an example of antigens that demonstrate dosage effect.

A

Duffy (Fya, Fyb), Rh (except D), MNSs, and Kidd (Jka, Jkb) antigens demonstrate dosage effect.

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23
Q

What is meant by linkage in genetics?

A

Linkage refers to genes being inherited together because they are very close on a chromosome.

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24
Q

What is crossing over?

A

Crossing over is the exchange of genetic material during meiosis between paired chromosomes.

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25
Q

When does crossing over occur?

A

Crossing over is seen with genes on the same chromosome, but it does not occur when genes are linked.

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26
Q

How is the phenotype frequency determined?

A

Phenotype frequency is determined by testing red cells from a large random sample of individuals of the same race.

27
Q

How are the positive and negative percentages calculated for a given blood group system?

A

The positive and negative percentages are calculated by testing a large random sample of individuals and determining the percentage of positive and negative reactions.

28
Q

What should be the sum of all possible frequencies for any given blood group system?

A

The sum of all possible frequencies for any given blood group system should be 100.

29
Q

What is the frequency for the Kell positive phenotype in the example given?

A

The frequency for the Kell positive phenotype is 9%.

30
Q

What is the frequency for the Kell negative phenotype in the example given?

A

The frequency for the Kell negative phenotype is 91%.

31
Q

If 10,000 Caucasians are tested for the Kell antigen and 900 produce a positive reaction, how many samples are negative?

A

The remaining 9100 samples are negative.

32
Q

If a patient has anti-K antibody, how many samples out of ten would be compatible?

A

Out of ten samples, 9 or 91% would be compatible.

33
Q

What does the Antigen Frequency Chart indicate?

A

The Antigen Frequency Chart indicates the frequency of the population that is positive for specific antigens.

34
Q

What does a low frequency antigen indicated on the Antigen Frequency Chart?

A

A low frequency antigen, indicated as ‘5-‘, means that 9 out of 10 individuals should be negative for that antigen.

35
Q

What percentage of the population is the silano (k) antigen present in?

A

The silano (k) antigen is present in 99% of the population.

36
Q

How can you calculate the likelihood of finding a combination of antigen negative blood?

A

By multiplying the frequencies of antigen negative blood together, you can calculate the likelihood of finding that combination.

37
Q

What is the recommended control for positive control in antigen testing?

A

The recommended positive control is a heterozygous cell (single dose) for the appropriate antigen, such as E+ e+, C+ c+, Fya + Fyb +.

38
Q

What is the recommended control for negative control in antigen testing?

A

The recommended negative control is a cell negative for the appropriate antigen, such as E neg, c neg, Fya neg.

39
Q

What is a super important point to remember about positive control in antigen testing?

A

The positive control must always be a heterozygous cell.

40
Q

What is the first step to calculate the frequency of units that are negative?

A

The first step is to subtract each frequency from 100 to get the percent of blood negative for each antigen in the population.

41
Q

What should you do if you are looking for the frequency of units that are negative?

A

If you are looking for the frequency of units that are negative, you need to take the reciprocal of the frequency.

42
Q

What is the reciprocal of a frequency of 70%?

A

The reciprocal of a frequency of 70% is 30% or 0.30.

43
Q

What might you need to know everything about for the national exam?

A

You may need to know everything about blood group system frequencies for the national exam.

44
Q

What is the definition of linkage?

A

When genes are very close together and inherited as a unit.

45
Q

What are haplotypes?

A

Gene units inherited together when genes are close.

46
Q

Give an example of genes that are closely linked.

A

The D gene is closely linked to the Cc and Ee genes.

47
Q

What is the most frequently inherited Rh Positive set of genes?

A

CDe.

48
Q

What is the most frequent Rh Negative gene?

A

cde or ce since d is an amorph.

49
Q

What are silent genes called?

A

Amorphs.

50
Q

What happens if silent genes are passed on by both parents?

A

They can result in an unusual phenotype called “NULL” types.

51
Q

Give an example of an Rh null individual phenotype.

A

Lacking the presence of all Rh system antigens, no Rh antigens at all.

52
Q

What do suppressor genes do?

A

Suppress the expression of another gene to produce a NULL expression.

53
Q

Give an example of a suppressor gene.

A

In(Jk) results in the Jk(a – b –) phenotype.

54
Q

What is CIS in genetic interaction?

A

Genes on the same chromosome.

55
Q

What is TRANS in genetic interaction?

A

Genes on opposite chromosomes that may weaken the expression of one antigen.

56
Q

Give an example of trans inheritance in the Rh system.

A

When the C gene weakens the D antigen expression on RBC’s.

57
Q

What is obligatory gene?

A

A gene that should be passed on by the alleged father to prove/disprove paternity.

58
Q

How can paternity be excluded?

A

Through direct exclusion or indirect exclusion.

59
Q

What is direct exclusion in paternity testing?

A

A genetic marker inherited by the child but not found in the mother or alleged father.

60
Q

What is indirect exclusion in paternity testing?

A

When the child lacks a genetic marker that should have been inherited.

61
Q

What does an indirect exclusion result from?

A

It may result from the presence of a silent gene.

62
Q

Can indirect exclusion be the only marker used to exclude paternity?

A

No, it cannot be the only exclusion gene.

63
Q

Why can’t indirect exclusion be the only marker used to exclude paternity?

A

You would need to test multiple sites to ensure accuracy in the example of silent or suppressor genes.

Transfusion (7 decks)

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