Beruflich Dokumente
Kultur Dokumente
P O RGROUP
T ANTIGEN AND GENE TERMINOLOGY
ABBREVIATIONS: HGM = Human Gene Mapping (Nomenclature Committee); ISGN = International System for Gene Nomenclature; IVS = intron intervening sequence; nt(s) = nucleotide(s).
From the American Red Cross Blood Services, Southern California Region, Los Angeles, California; Blood Transfusion Service,
Massachusetts General Hospital, Boston, Massachusetts; Transfusion Service, Duke University Medical Center, Durham, North
Carolina; the Department of Pathology, Washington University
School of Medicine, St. Louis, Missouri; the Lindsley F. Kimball
Research Institute, New York Blood Center, New York, New
York; and the Rh Laboratory, University of Manitoba, Winnipeg,
Manitoba, Canada.
Address reprint requests to: George Garratty, PhD, FRCPath,
American Red Cross Blood Services, Southern California Region,
1130 South Vermont Avenue, Los Angeles, CA 90006; e-mail:
garratty@usa.redcross.org.
Received for publication August 6, 1999; revision received
and accepted August 17, 1999.
TRANSFUSION 2000;40:477-489.
GARRATTY ET AL.
System symbol
ISBT number
Traditional
ISBT
001
002
003
004
005
006
007
008
009
010
011
012
013
014
015
ABO
MN
P
Rh
Lu
K
Le
Fy
Jk
Di
Yt
Xg
Sc
Do
Co
ABO
MNS
P1
RH
LU
KEL
LE
FY
JK
DI
YT
XG
SC
DO
CO
016
017
018
019
020
021
022
023
024
025
LW
Ch/Rg
H
Kx
Ge
Cromer
Kn
In
Ok
Raph
LW
CH/RG
H
XK
GE
CROM
KN
IN
OK
MER2
GARRATTY ET AL.
Duffy (FY)
Kidd (JK)
Diego (DI)
Fya (FY1)
Fyb (FY2)
Fy3 (FY3)
Fy4 (FY4)
Fy5 (FY5)
Fy6 (FY6)
Jka (JK1)
Jkb (JK2)
Jk3 (JK3)
Dia (DI1)
Dib (DI2)
Wra (DI3)
Wrb (DI4)
Wda (DI5)
Rba (DI6)
WARR (DI7)
ELO (DI8)
Wu (DI9)
Bpa (DI10)
Moa (DI11)
Hga (DI12)
Vga (DI13)
Swa (DI14)
BOW (DI15)
NFLD (DI16)
Jna (DI17)
KREP (DI18)
Fra (DI20)
SW1 (DI21)
Chido/Rodgers
(CH/RG)
Ch1 (CH1)
Ch2 (CH2)
Ch3 (CH3)
Ch4 (CH4)
Ch5 (CH5)
Ch6 (CH6)
WH (CH7)
Rg1 (RG1)
Rg2 (RG2)
Hh (H)
H (H1)
P (P)
Rh (RH)
sD (MNS23)
P1 or P1 (P1)
Mit (MNS24)
Dantu (MNS25)
Hop (MNS26)
Nob (MNS27)
Ena (MNS28)
ENKT (MNS29)
'N' (MNS30)
Or (MNS31)
Dane (MNS32)
TSEN (MNS33)
MINY (MNS34)
MUT (MNS35)
SAT (MNS36)
ERIK (MNS37)
Osa (MNS38)
ENEP (MNS39)
ENEH (MNS40)
HAG (MNS41)
ENAV (MNS42)
MARS (MNS43)
A (ABO1)
B (ABO2)
A,B (ABO3)
A1 or A1
(ABO4)
Kx (XK)
Kx (XK1)
Yt or
Cartwright (YT)
Yta (YTI)
Ytb (YT2)
Gerbich (GE)
Ge2 (GE2)
Ge3 (GE3)
Ge4 (GE4)
Wb (GE5)
Lsa (GE6)
Ana (GE7)
Dha (GE8)
D (RH1)
C (RH2)
E (RH3)
c (RH4)
e (RH5)
f (RH6)
Ce (RH7)
Cw (RH8)
Cx (RH9)
V (RH10)
Ew (RH11)
G (RH12)
Hro (RH17)
Hr (RH18)
hrs (RH19)
VS (RH20)
CG (RH21)
CE (RH22)
Dw (RH23)
c-like (RH26)
cE (RH27)
hrH (RH28)
Rh29 (RH29)
Xg (XG)
Lutheran (LU)
Goa (RH30)
hrB (RH31)
Rh32 (RH32)
Rh33 (RH33)
HrB (RH34)
Rh35 (RH35)
Bea (RH36)
Evans (RH37)
Rh39 (RH39)
Tar (RH40)
Rh41 (RH41)
Rh42 (RH42)
Craw (RH43)
Nou (RH44)
Riv (RH45)
Sec (RH46)
Dav (RH47)
JAL (RH48)
STEM (RH49)
FPTT (RH50)
MAR (RH51)
BARC (RH52)
Lua (LU1)
Lub (LU2)
Lu3 (LU3)
Lu4 (LU4)
Lu5 (LU5)
Lu6 (LU6)
Lu7 (LU7)
Lu8 (LU8)
Lu9 (LU9)
Lu11 (LU11)
Lu12 (LU12)
Lu13 (LU13)
Lu14 (LU14)
Lu16 (LU16)
Lu17 (LU17)
Aua (LU18)
Aub (LU19)
Lu20 (LU20)
Xga (XG1)
Sc1 (SC1)
Sc2 (SC2)
Sc3 (SC3)
Doa (DO1)
Dob (DO2)
Gya (DO3)
Hy (DO4)
Joa (DO5)
Cromer (CR)
Knops (KN)
Indian (IN)
Cra (CROM1)
Tca (CROM2)
Tcb (CROM3)
Tcc (CROM4)
Dra (CROM5)
Esa (CROM6)
IFC (CROM7)
WESa (CROM8)
WESb (CROM9)
UMC (CROM10)
Kna (KN1)
Knb (KN2)
McCa (KN3)
Sla (KN4)
Yka (KN5)
Ina (IN1)
Inb (IN2)
Kell (KEL)
Lewis (LE)
K (KEL1)
Lea (LE1)
k (KEL2)
Leb (LE2)
Kpa (KEL3)
Leab (LE3)
Kpb (KEL4)
LebH (LE4)
Ku (KEL5)
ALeb (LE5)
Jsa (KEL6)
BLeb (LE6)
Jsb (KEL7)
Ula (KEL10)
K11 (KEL11)
K12 (KEL12)
K13 (KEL13)
K14 (KEL14)
K16 (KEL16)
K17 or Wka
(KEL17)
K18 (KEL18)
K19 (KEL19)
Km (KEL20)
Kpc (KEL21)
K22 (KEL22)
K23 (KEL23)
K24 (KEL24)
VLAN (KEL25)
TOU (KEL26)
Ok (OK)
Oka (OK1)
LWa (LW5)
LWab (LW6)
LWb (LW7)
Raph (MER2)
Raph (MER2)
SARA
LOCR
REIT
700.52
700.53
700.54
Symbol
Vel
Lan
Ata
Jra
JMH
Emm
AnWj
Sda
Duclos
PEL
ABTI
MAM
Number
901.1
901.2
901.3
901.5
901.7
901.8
901.9
901.12
901.13
901.14
901.15
901.16
ing any gene (the names and contact information for the
appropriate HGM Nomenclature Committee members are
provided in White et al.40). Finally, it is important for investigators to realize that ISGN gene designations change as
more functional information becomes available. TRANSFUSION will continue to use traditional gene terminology
(e.g., Rh, Fy, Jk), but, when investigations are molecular in
nature, the ISGN symbols will sometimes be used in addition, in parentheses (e.g., Fy [DARC], Jk [SLC14A1]).
GARRATTY ET AL.
TABLE 6. RBC antigens described in the literature that have traditional but not ISBT names or symbols
MNSs or MNS or MN system
Kell system
Lewis system
Xg System
Cromer system
Knops system
Ii collection
GLOB collection
Independent lowincidence antigens
Independent highincidence antigens
Bg series
Pr series
Other antigens defined
by cold autoantibodies
Antigens involved in
polyagglutination
M1, Tm, MA, Sul, Sj, M, EnaTS, EnaFS, EnaFR, Shier, NA, UZ, UX, Can, UPS, UPR, Hu, Sext
RAZ
Lex, LebL, A1Led, BLed, ILebH
12E7, CD99
AM
McCb, Vil, Sieb
IF, ID, j, IH, IA, IB, iH, IT, IP1, ITP1, IP, IBH, IAB
p
SHIN, JAHK
Jca
Bga, Bgb, Bgc
Pr1h, Pr1d, Pr2, Pr3h, Pr3d, Pra, PrM, PrN
Gd1 (Sia-lb1), Gd2 (Sia-lb2), Sa, Fl(Sia-b1), Lud, Vo(Sia-l1), Li, Me, Om, Ju
T, Tn, Tk, Th, Tx, Tr, VA, Cad, HEMPAS, NOR, HbM
TABLE 7. Terminology for blood group system genes and gene products
Blood group
Gene symbols
system name
Traditional
ABO
ABO
ABO
ISBT
ABO
MNS
MN or MNSs
MNS
P
Rh
P1
Rh
Lutheran
Kell
Lewis
Duffy
Kidd
Diego
Yt
Xg
Scianna
Dombrock
Colton
Landsteiner-Wiener
Chido/Rodgers
Lu
K
Le
Fy
Jk
Di
Yt
Xg
Sc
Do
Co
LW
Ch/Rg
P1
RHD
RHCE
LU
KEL
LE
FY
JK
DI
YT
XG
SC
DO
CO
LW
CH/RG
Hh
Kx
Gerbich
Cromer
Knops
Indian
Ok
Raph
Hh
Kx
Ge
Cromer
Kn
In
Ok
Raph
H
XK
GE
CROM
KN
IN
OK
MER2
GYPA
GYPB
GYPE
P1
RHD
RHCE
LU
KEL
FUT3
DARC
SLC14A1
SLC4A1
ACHE
XG
SC
DO
AQP1
LW
C4A
C4B
FUT1
XK
GYPC
DAF
CR1
CD44
CD147
MER2
ISGN
and the extra nts. For example, one variant of the Co(a
b) phenotype is 308-309insT, denoting the insertion
of a T between nts 308 and 309 of the AQP1 gene. In
cases of ambiguity in the location of insertions in short
repeats, the 3 nt is chosen (e.g., insertion of a C into
the sequence ACCCT would be denoted as an insertion
between the C and the T).
Variable short sequence repeats: Designated as the first
nt of the first repeat followed by the short repeat sequence (in parentheses) and then the number of re-
FINAL THOUGHTS
Using correct terminology is as important as using correct
English in writing and conversation. The correct form for
both is the most efficient method of communicating the
message clearly. Unfortunately, many investigators and
well-known medical journals are not attentive to correct
blood group antigen nomenclature and terminology. We
GARRATTY ET AL.
TABLE 9. (cont'd.)
Blood group systems (cont'd)
Gerbich system
Ge:2,3,4 Wb Ls(a) An(a) Dh(a)
[GE:2,3,4,5,6,7,8]
Gerbich phenotype may be used instead of Ge:2,3,4
[GE:2,3,4].
Yus phenotype may be used instead of Ge:2,3,4
[GE:2,3,4].
Leach phenotype may be used instead of Ge:2,3,4
[GE:2,3,4].
Cromer system
Cr(a+) Tc(a+bc) Dr(a+) Es(a+) IFC+ WES(ab+) UMC+
[CROM:1,2,3,4,5,6,7,8,9,10]
Null phenotype: Inab phenotype
[CROM:1,2,3,4,5,6,7,8,9,10]
Knops system
Kn(a+b) McC(a+) Sl(a+) Yk(a+) [KN:1,2,3,4,5]
Null phenotype: Helgeson phenotype
Indian system
In(ab+) [IN:1,2]
Ok system
Ok(a+)
[OK:1]
Ok(a)
[OK:1]
Raph system
MER2+ [RAPH:1]
Antigen collections
Cost collection
Cs(a+b) [COST:1,2]
Ii collection
I adult
i adult
i cord
The numerical designations for these phenotypes have not been provided, as they are to be modified in the near future.
Er collection
Er(a+b) [ER:1,2]
GLOB collection
p
P1k
P2k
LKE+
The numerical designations for these phenotypes have not been provided as they are to be modified in the near future.
Low-frequency antigen (700) series and high-frequency antigen (901) series
700 series
By, Chr(a), Bi, Bx(a)
[700:2,3,5,6]
901 series
Vel+, Lan+, At(a+), Jr(a+)
[901:1,2,3,5]
Nucleoside
Nucleotide
abbreviation
Thymine
Cytosine
Adenine
Guanine
Thymidine
Cytidine
Adenosine
Guanosine
T
C
A
G
Molecular
class
Pyrimidine
Pyrimidine
Purine
Purine
Alanine
Arginine
Asparagine
Aspartic acid
Cysteine
Glutamine
Glutamic acid
Glycine
Histidine
Isoleucine
Leucine
Lysine
Methionine
Phenylalanine
Proline
Serine
Threonine
Tryptophan
Tyrosine
Valine
Three-letter
symbol
Single-letter
symbol
Ala
Arg
Asn
Asp
Cys
Gln
Glu
Gly
His
Ile
Leu
Lys
Met
Phe
Pro
Ser
Thr
Trp
Tyr
Val
A
R
N
D
C
Q
E
G
H
I
L
K
M
F
P
S
T
W
Y
V
GARRATTY ET AL.
Gene
k/K
RhE/Rhe
Fya/Fyb
Co(ab)*
KEL
RHCE
DARC
AQP1
Rhnull*
RHAG
RHCE
Nucleotide
Amino acid
578C>A
676C>G
131G>A
113C>T
308-309insT
836G>A
IVS1+1G>A
IVS61G>A
[966delT;968delA]
T193M
P226A
G44D
P38L
Frameshift
G279E
Prevents splicing
Skips exon 7
Frameshift
* There are several genetic mutations underlying the Co(ab) and Rhnull phenotypes; only
a few are listed here.
Web site
http://www.aabb.org
http://www.transfusion.org
http://www.iccbba.com/page25.htm
http://scarf.uth.tmc.edu/index.html
http://www.expasy.ch/alinks.html
http://www.public.iastate.edu/~pedro/research_tools.html
http://www.nhgri.nih.gov/DIR/VIP/Glossary/
http://www.gene.ucl.ac.uk/nomenclature/guidelines.html
http://www.bioc.aecom.yu.edu/bgmut/index.htm
REFERENCES
01. Landsteiner K. [Agglutination phenomena in normal human blood.] Wien Klin Wochenschr 1901;14:1132-4. [An
English translation, by A.L. Kappus, appears in Transfusion
1961;1:5-8.]
02. Von Decastello A, Sturli A. [Concerning isoagglutinins in
serum of healthy and sick humans.] Munch Med
Wochenschr 1902;26:1090-5. [An English translation appears in Selected Contributions to the Literature of Blood
Groups and Immunology, vol 1. Landsteiner Centennial,
Fort Knox, KY: Blood Transfusion Division, US Army Medical Research Laboratory, 1966: pp 19-38.]
03. Landsteiner K. [Specific binding and antibodies. IV. hemagglutination and hemolysis.] In: Oppenheimer C, ed.
Handbuch der Biochemie des Menschen und der Tiere, vol
2, part 1. Jena: Gustav Fischer Verlag, 1910:395-541. [An English translation can be found in Selected Contributions to
the Literature of Blood Groups and Immunology, vol 5.
Landsteiner Centennial. Fort Knox, KY: Blood Transfusion
Division, US Army Medical Research Laboratory, 1968:106331.
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structures of the blood.] Z Immunitatsforsch Exp Ther
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Immunology, vol 1. Landsteiner Centennial. Fort Knox, KY:
Blood Transfusion Division, US Army Medical Research
Laboratory, 1966:39-81.]
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07. Moss WL. Studies on isoagglutinins and isohemolysins.
Bull Johns Hopkins Hosp 1910;21:63-70.
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10. Kennedy JA. Blood group classifications used in hospitals in
the United States and Canada. JAMA 1929;92:610-5.
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blood recognised by immune sera for rhesus blood. Proc
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12. Fisher RA, Race RR. Rh gene frequencies in Britain. Nature
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13. Race RR, Sanger R. Blood groups in man. Oxford: Blackwell,
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group system. NY State J Med 1969;69:2915-35.
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16. Andresen PH, Callender ST, Fisher RA, et al. A notation for
the Lewis and Lutheran blood-group systems (letter). Nature 1949;163:580.
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Durham, NC: Montgomery Scientific, 1998.
18. Allen FH, Diamond LK, Niedziela B. A new blood-group antigen (letter). Nature 1951;167:482.
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37.
APPENDIX 1.
COMMONLY USED MOLECULAR
BIOLOGIC TERMS
Allele-specific oligonucleotide PCR (ASOPs), sequencespecific primer PCR: Method by which allele specific primers (approx. 20 bp) are used for PCR amplification. Hybridization may be disrupted by a mismatch of a single
nucleotide, and therefore failure to amplify may signify a
mutation or polymorphism in the gene.
Amplicon or replicon: Specific points at which DNA replication is initiated. A molecule of DNA has multiple replicons.
Annealing: Process by which complementary antiparallel
segments of DNA pair, creating a DNA duplex.
Arbitrarily primed PCR (genomic fingerprinting technique): Use of an undefined primer to amplify unknown
segments of the DNA.
Codon: A set of three nts that code for one amino acid or
chain termination.
cDNA: Double-stranded DNA that represents expressed sequences of the genome, obtained by the reverse transcription of mRNA.
Conserved regions: Certain regions of DNA are highly conserved, within and across species. Such regions are most
common in expressed sequences that tolerate little variability and in functional gene sequences, such as splice sites
and initiation sequences.
Conserved 5 UTR (untranslated region): Sequence downstream of transcription start and upstream of translation
start.
GARRATTY ET AL.
Denaturation: Process by which the hydrogen bonds between bps are broken to create two single-stranded antiparallel and complementary strands of DNA.
Downstream: To the right of a sequence, read from 5 to 3,
or from left to right.
End labeling: Incorporation of 32P at the 5 end of an oligonucleotide via polynucleotide kinase and gamma-labeled
ATP.
Elongation: Polymerization of nts to create nucleic acid
molecules. Elongation proceeds 5 to 3 via a condensation
reaction.
Exon: Segment of a gene that is expressed. It is present only
in eukaryotes.
Forward or sense primer: The forward or sense primer anneals to the 3 end of the anti-sense strand and primes the
synthesis of the sense strand.
Gene: A DNA segment that contributes to phenotype or
function. In the absence of demonstrated function, a gene
may be characterized by sequence, transcription, or homology.
Gene conversion: Nonreciprocal exchange of genetic information as a result of heteroduplex formation between nonsister chromatids. Mismatches in the region of the heteroduplex are corrected so that one strand acts as the acceptor,
which is made to complement the second strand, the donor (i.e., base changes occur on one strand only, the acceptor strand). Disruption of the duplex and subsequent DNA
synthesis therefore create a portion of the acceptor strand,
the length of the heteroduplex, that mirrors the sequence
of the donor strand. Heteroduplex formation between allele pairs results in allelic conversion, while heteroduplex
formation between nonallelic pairs, due to a high degree of
homology, results in interlocus conversion.
Gene transduction: Transfer of genetic material (i.e., genes)
using a virus as the vector.
Genomic DNA: The entire genome of an organism that includes nuclear and extranuclear DNA (i.e., mitochondrial
DNA).
Haplotype: A series of linked alleles within a defined region
on a single maternal or paternal chromosome.
Homology: Segments of DNA from a variety of organisms
may display sequence similarity, or homology. The amount
of homology between species may be used to determine
evolutionary relationships and degrees of divergence. Functional genes often display homology across species; for example, homeobox genes that control early development
show high degrees of homology across species.
Hot-start PCR: Method of PCR in which the enzyme used
for the amplification reaction (i.e., Taq polymerase) is added
to template DNA that has been heated to 95C.
Hybridization: The annealing of single-stranded nucleic
acid chains.
Hypervariable region or hypervariable minisatellite DNA:
Highly polymorphic arrays of tandemly repeated DNA se-
quences (0.1-20 kb). Most are found near the telomere and
are not transcribed.
Intron: The intervening stretches of DNA between exons.
They are spliced out of the gene at the RNA level and are
not expressed as part of the gene product (protein).
Microsatellite: Small array of simple tandem repeats, usually 1 to 4 bp in length.
mRNA: Messenger RNA. DNA is transcribed into RNA,
which is eventually translated into protein.
Mutation: An error or permanent alteration that has occurred in the coding sequence of a gene or genetic regulatory element. There are several classes of mutations (nonsense, frameshift, insertion, deletion, and point mutation).
Northern blot/Southern blot: Hybridization techniques in
which single-stranded target nucleic acids, separated by
length by gel electrophoresis, are transferred and fixed to
nitrocellulose or nylon membranes. Radiolabeled probes
are used to demonstrate the presence or absence of target
nucleic acid sequences. In a Southern blot, the target is
DNA. In a Northern blot, the target is RNA.
NCRs (noncoding regions) of the genome: Segments of the
genome that are not expressed. Extensive regions of noncoding DNA are found at the teleomeres and around the
centromere, often termed heterochromatic DNA. NCRs are
also found within genes (e.g., introns and 5 and 3 UTRs).
Nucleoside: A nucleotide without a phosphate group.
Nucleotide: Building blocks of DNA and RNA. Composed
of phosphate groups, a 5-sided sugar molecule (ribose in
RNA; deoxyribose in DNA), and nitrogen-containing bases.
Nucleotide substitutions: Nucleotide substitutions are of
two types: 1) transitions, purine to purine or pyrimidine to
pyrimidine; and 2) transversions, purine to pyrimidine and
pyrimidine to purine. Naturally occurring substitutions
may occur via tautomerization of nucleotides. Nucleotide
analogues may also cause substitutions.
Oligonucleotide: Short polymer of nucleic acids. Often
made in vitro for use as probes.
Palindromes: Short sequences of DNA that may be read the
same in the forward and reverse direction: for example,
ATATTAATAT on one DNA strand and TATAATTATA on the
complementary strand. Palindromes may assume a specific
secondary structure that facilitates recognition.
PCR: In vitro method for the amplification of a specific sequence of DNA, using sequence-specific primer sets. The
temperature of the reaction is controlled such that amplification occurs in cycles.
Phage: A virus of bacteria, phage such as lambda have been
used to introduce foreign DNA into bacteria.
Plasmid: Nonessential, circular, supercoiled DNA that is
found in bacteria. Copy number is high, and the plasmid
replicates autonomously.
Primers: Short nucleic acid sequences, oligonucleotides,
that bind specifically to single-stranded target DNA. The 3