TRANS LECTURE 3 Flashcards

(63 cards)

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
When does crossing over occur?
Crossing over is seen with genes on the same chromosome, but it does not occur when genes are linked.
26
How is the phenotype frequency determined?
Phenotype frequency is determined by testing red cells from a large random sample of individuals of the same race.
27
How are the positive and negative percentages calculated for a given blood group system?
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
What should be the sum of all possible frequencies for any given blood group system?
The sum of all possible frequencies for any given blood group system should be 100.
29
What is the frequency for the Kell positive phenotype in the example given?
The frequency for the Kell positive phenotype is 9%.
30
What is the frequency for the Kell negative phenotype in the example given?
The frequency for the Kell negative phenotype is 91%.
31
If 10,000 Caucasians are tested for the Kell antigen and 900 produce a positive reaction, how many samples are negative?
The remaining 9100 samples are negative.
32
If a patient has anti-K antibody, how many samples out of ten would be compatible?
Out of ten samples, 9 or 91% would be compatible.
33
What does the Antigen Frequency Chart indicate?
The Antigen Frequency Chart indicates the frequency of the population that is positive for specific antigens.
34
What does a low frequency antigen indicated on the Antigen Frequency Chart?
A low frequency antigen, indicated as '5-', means that 9 out of 10 individuals should be negative for that antigen.
35
What percentage of the population is the silano (k) antigen present in?
The silano (k) antigen is present in 99% of the population.
36
How can you calculate the likelihood of finding a combination of antigen negative blood?
By multiplying the frequencies of antigen negative blood together, you can calculate the likelihood of finding that combination.
37
What is the recommended control for positive control in antigen testing?
The recommended positive control is a heterozygous cell (single dose) for the appropriate antigen, such as E+ e+, C+ c+, Fya + Fyb +.
38
What is the recommended control for negative control in antigen testing?
The recommended negative control is a cell negative for the appropriate antigen, such as E neg, c neg, Fya neg.
39
What is a super important point to remember about positive control in antigen testing?
The positive control must always be a heterozygous cell.
40
What is the first step to calculate the frequency of units that are negative?
The first step is to subtract each frequency from 100 to get the percent of blood negative for each antigen in the population.
41
What should you do if you are looking for the frequency of units that are negative?
If you are looking for the frequency of units that are negative, you need to take the reciprocal of the frequency.
42
What is the reciprocal of a frequency of 70%?
The reciprocal of a frequency of 70% is 30% or 0.30.
43
What might you need to know everything about for the national exam?
You may need to know everything about blood group system frequencies for the national exam.
44
What is the definition of linkage?
When genes are very close together and inherited as a unit.
45
What are haplotypes?
Gene units inherited together when genes are close.
46
Give an example of genes that are closely linked.
The D gene is closely linked to the Cc and Ee genes.
47
What is the most frequently inherited Rh Positive set of genes?
CDe.
48
What is the most frequent Rh Negative gene?
cde or ce since d is an amorph.
49
What are silent genes called?
Amorphs.
50
What happens if silent genes are passed on by both parents?
They can result in an unusual phenotype called "NULL" types.
51
Give an example of an Rh null individual phenotype.
Lacking the presence of all Rh system antigens, no Rh antigens at all.
52
What do suppressor genes do?
Suppress the expression of another gene to produce a NULL expression.
53
Give an example of a suppressor gene.
In(Jk) results in the Jk(a – b –) phenotype.
54
What is CIS in genetic interaction?
Genes on the same chromosome.
55
What is TRANS in genetic interaction?
Genes on opposite chromosomes that may weaken the expression of one antigen.
56
Give an example of trans inheritance in the Rh system.
When the C gene weakens the D antigen expression on RBC's.
57
What is obligatory gene?
A gene that should be passed on by the alleged father to prove/disprove paternity.
58
How can paternity be excluded?
Through direct exclusion or indirect exclusion.
59
What is direct exclusion in paternity testing?
A genetic marker inherited by the child but not found in the mother or alleged father.
60
What is indirect exclusion in paternity testing?
When the child lacks a genetic marker that should have been inherited.
61
What does an indirect exclusion result from?
It may result from the presence of a silent gene.
62
Can indirect exclusion be the only marker used to exclude paternity?
No, it cannot be the only exclusion gene.
63
Why can't indirect exclusion be the only marker used to exclude paternity?
You would need to test multiple sites to ensure accuracy in the example of silent or suppressor genes.