Genetics Flashcards

(52 cards)

1
Q

term for: individual traits are inherited separately from each other

A

Independent Segregation (Mendel)

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2
Q

<p>term for: genes for different traits are inherited separately from each other</p>

A

<p>Independent Assortment (Mendel)</p>

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3
Q

Hardy-Weinberg principle (2 equations, definition for each unknown)

A

p + q = 1 p^2 + 2pq + q^2= 1

p = gene frequency of dominant allele q = gene frequency of recessive allele

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4
Q

In humans, there are ____ pairs of autosomes and ___ pairs of sex chromosomes

A

22 pairs of autosomes and 1 pair of sex chromosomes

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5
Q

a segment of DNA that encodes a particular protein

A

a gene

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6
Q

a genetically determined characteristic or condition

A

a trait

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7
Q

alternative forms of a gene

A

alleles

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8
Q

Two blood group systems encoded by X-borne genes

A

Xg system (XG gene) and Kx system (XK gene)

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9
Q

Mutations or deletions in ____ gene result in McLeod phenotype red cells that lack ___ antigens and have reduced expression of ___ antigens

A

XK gene, lack Kx antigens, reduced Kell antigens

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10
Q

The only blood group system gene subject to X-chromosome inactivation

A

Kx. Female carriers can have a dual population of Kx+ and Kx- cells

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11
Q

The H and Se genes are located on chromosome ___

A

19

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12
Q

ABO genes are located on chromosome ___

A

9q34

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13
Q

The H gene elicits the production of an enzyme called ____________ which transfers the sugar _____ to an oligosaccharide chain on the terminal galactose of type 2 chains

A

α-2-L-fucosyltransferase; L-fucose

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14
Q

H gene’s glycosyltransferase:

A

α-2-L-fucosyltransferase

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15
Q

H gene’s immunodominant sugar:

A

L-fucose

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16
Q

“A” gene’s glycosyltransferase:

A

α-3-N-acetylgalactosaminyltransferase

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17
Q

“A” gene’s immunodominant sugar:

A

N-acetyl-D-galactosamine (GalNAc)

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18
Q

“B” gene’s glycosyltransferae:

A

α-3-D-galactosyltransferase

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19
Q

“B” gene’s immunodominant sugar:

A

D-galactose

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20
Q

% of population who are secretors (Sese or SeSe)

A

80%

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21
Q

RBC antigens are synthesized only one type ___ precursor chains

22
Q

Secreted substances are primarily synthesized on type ___ precursor chains

23
Q

Type 2 chain refers to a beta __ –> __ linkage

A

beta 1 –> 4; #1 carbon on galactose to #4 carbon of N-acetylglucosamine

24
Q

Type 1 chain refers to a beta __ –> __ linkage

A

beta 1 –> 3; #1 carbon on galactose is attached to #4 carbon of N-acetylglucosamine

25
Assume a woman's BV =
5000 ml
26
1 kg =
2.2 lb
27
of units to screen
#units needed/ ag neg frequency
28
BV =
kg (75mL/kg)
29
% blood lost =
volume lost/BV
30
PV =
BV(1 - Hct)
31
max volume collected =
10.5 ml/kg
32
FUT2
Se gene, adds H
33
FUT3
Le gene, adds Lea
34
CCI =
(plt increase)(BSA)/plt (x10^11)
35
Intrinsic factors, test, + drug
12, 11, 9, 8, Heparin, PTT
36
Extrinsic factors
7, PT, warfarin (WaPTEx)
37
relative risk
A*D/B*C
38
sensitivity
TP/TP+FN
39
specificity
TN/FP+TN
40
Rh common in whites
R1, r, R2, R0, r', r'' | 1r 20' "
41
Rh common in blacks
R0, r, R1, R2, r'
42
what factors are reduced in thawed plasma
factors V and VIII
43
CPD expiration
21 days
44
CPDA-1 expiration
35 days
45
AS-1,-3,-5 expiration
42 days
46
factors in cryo
fibrinogen, factor 8, vWF, factor 13
47
causes of a left shift
``` increased affinity (as in carbon monoxide poisoning) decreased temp, decreased 2,3-DPG, decreased H+ , decreased CO2 ```
48
storage lesion
ATP decrease Potassium increase Sodium decrease
49
purpose of adenine in additive solution
substrate for ATP synthesis
50
purpose of citrate in additive solution
prevents coagulation by binding calcium
51
absolute white count in leukoreduced RBCs
less than 5 x 10^6
52
apheresis platelets must contain at least
3.0 x 10^11 platelets