Genetics Flashcards
term for: individual traits are inherited separately from each other
Independent Segregation (Mendel)
<p>term for: genes for different traits are inherited separately from each other</p>
<p>Independent Assortment (Mendel)</p>
Hardy-Weinberg principle (2 equations, definition for each unknown)
p + q = 1 p^2 + 2pq + q^2= 1
p = gene frequency of dominant allele q = gene frequency of recessive allele
In humans, there are ____ pairs of autosomes and ___ pairs of sex chromosomes
22 pairs of autosomes and 1 pair of sex chromosomes
a segment of DNA that encodes a particular protein
a gene
a genetically determined characteristic or condition
a trait
alternative forms of a gene
alleles
Two blood group systems encoded by X-borne genes
Xg system (XG gene) and Kx system (XK gene)
Mutations or deletions in ____ gene result in McLeod phenotype red cells that lack ___ antigens and have reduced expression of ___ antigens
XK gene, lack Kx antigens, reduced Kell antigens
The only blood group system gene subject to X-chromosome inactivation
Kx. Female carriers can have a dual population of Kx+ and Kx- cells
The H and Se genes are located on chromosome ___
19
ABO genes are located on chromosome ___
9q34
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
α-2-L-fucosyltransferase; L-fucose
H gene’s glycosyltransferase:
α-2-L-fucosyltransferase
H gene’s immunodominant sugar:
L-fucose
“A” gene’s glycosyltransferase:
α-3-N-acetylgalactosaminyltransferase
“A” gene’s immunodominant sugar:
N-acetyl-D-galactosamine (GalNAc)
“B” gene’s glycosyltransferae:
α-3-D-galactosyltransferase
“B” gene’s immunodominant sugar:
D-galactose
% of population who are secretors (Sese or SeSe)
80%
RBC antigens are synthesized only one type ___ precursor chains
2
Secreted substances are primarily synthesized on type ___ precursor chains
1
Type 2 chain refers to a beta __ –> __ linkage
beta 1 –> 4; #1 carbon on galactose to #4 carbon of N-acetylglucosamine
Type 1 chain refers to a beta __ –> __ linkage
beta 1 –> 3; #1 carbon on galactose is attached to #4 carbon of N-acetylglucosamine
Assume a woman’s BV =
5000 ml
1 kg =
2.2 lb
of units to screen
units needed/ ag neg frequency
BV =
kg (75mL/kg)
% blood lost =
volume lost/BV
PV =
BV(1 - Hct)
max volume collected =
10.5 ml/kg
FUT2
Se gene, adds H
FUT3
Le gene, adds Lea
CCI =
(plt increase)(BSA)/plt (x10^11)
Intrinsic factors, test, + drug
12, 11, 9, 8, Heparin, PTT
Extrinsic factors
7, PT, warfarin (WaPTEx)
relative risk
AD/BC
sensitivity
TP/TP+FN
specificity
TN/FP+TN
Rh common in whites
R1, r, R2, R0, r’, r’’
1r 20’ “
Rh common in blacks
R0, r, R1, R2, r’
what factors are reduced in thawed plasma
factors V and VIII
CPD expiration
21 days
CPDA-1 expiration
35 days
AS-1,-3,-5 expiration
42 days
factors in cryo
fibrinogen, factor 8, vWF, factor 13
causes of a left shift
increased affinity (as in carbon monoxide poisoning) decreased temp, decreased 2,3-DPG, decreased H+ , decreased CO2
storage lesion
ATP decrease
Potassium increase
Sodium decrease
purpose of adenine in additive solution
substrate for ATP synthesis
purpose of citrate in additive solution
prevents coagulation by binding calcium
absolute white count in leukoreduced RBCs
less than 5 x 10^6
apheresis platelets must contain at least
3.0 x 10^11 platelets