Genetics Flashcards

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

A

2

22
Q

Secreted substances are primarily synthesized on type ___ precursor chains

A

1

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
Q

Assume a woman’s BV =

A

5000 ml

26
Q

1 kg =

A

2.2 lb

27
Q

of units to screen

A

units needed/ ag neg frequency

28
Q

BV =

A

kg (75mL/kg)

29
Q

% blood lost =

A

volume lost/BV

30
Q

PV =

A

BV(1 - Hct)

31
Q

max volume collected =

A

10.5 ml/kg

32
Q

FUT2

A

Se gene, adds H

33
Q

FUT3

A

Le gene, adds Lea

34
Q

CCI =

A

(plt increase)(BSA)/plt (x10^11)

35
Q

Intrinsic factors, test, + drug

A

12, 11, 9, 8, Heparin, PTT

36
Q

Extrinsic factors

A

7, PT, warfarin (WaPTEx)

37
Q

relative risk

A

AD/BC

38
Q

sensitivity

A

TP/TP+FN

39
Q

specificity

A

TN/FP+TN

40
Q

Rh common in whites

A

R1, r, R2, R0, r’, r’’

1r 20’ “

41
Q

Rh common in blacks

A

R0, r, R1, R2, r’

42
Q

what factors are reduced in thawed plasma

A

factors V and VIII

43
Q

CPD expiration

A

21 days

44
Q

CPDA-1 expiration

A

35 days

45
Q

AS-1,-3,-5 expiration

A

42 days

46
Q

factors in cryo

A

fibrinogen, factor 8, vWF, factor 13

47
Q

causes of a left shift

A
increased affinity (as in carbon monoxide poisoning)
decreased temp, decreased 2,3-DPG, decreased H+ , decreased CO2
48
Q

storage lesion

A

ATP decrease
Potassium increase
Sodium decrease

49
Q

purpose of adenine in additive solution

A

substrate for ATP synthesis

50
Q

purpose of citrate in additive solution

A

prevents coagulation by binding calcium

51
Q

absolute white count in leukoreduced RBCs

A

less than 5 x 10^6

52
Q

apheresis platelets must contain at least

A

3.0 x 10^11 platelets