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Citing this page: Lefranc, M.-P. and Lefranc, G. Human Gm, Km and Am allotypes and their molecular characterization: a remarkable demonstration of polymorphism In: B. Tait, F. Christiansen (Eds.), Immunogenetics, chap. 34, Humana Press, Springer, New York, USA. Methods Mol. Biol. 2012; 882, 635-680. PMID: 22665258

Part 3 - BamHI-SacI RFLP alleles, BS haplotypes and Gm haplotypes

Allotypes have been identified for five of the human IGHC genes, the IGHG1, IGHG2, IGHG3, IGHA2 and IGHE genes, and are designated as G1m, G2m, G3m, A2m and Em allotypes, respectively. These allotypes are inherited in fixed combinations, or Gm-Am-Em haplotypes.

The combined analysis of Gm polymorphism and associated RFLPs is a powerful tool to define more precisely the polymorphism of the IGHG genes and, consequently, to understand the structure and evolution of this multigene family [1-3].

Citing this table: Osipova, L.P. et al., Hum. Genet., 105, 530-541 (1999) [3].

BamHI-SacI
RFLP alleles (1)
G3.G1.GP.G2.G4		 IGHG deletion,
duplication,
or triplication		 BS
haplotypes		 Gm haplotypes (2)
Ghanem et al., 1988 [1] Ghanem et al., 1989 [4] Dard et al., 1996 [2] Osipova et al., 1999 [3]
Caucasoids N Black Africans N Mandenka N Selkups N
1.1.1.1.1.   BS12 21*;1,17;.. 2 5*;1,17.. 2        
1.1.1.1.2.   BS7 5*;3;..
21*;1,17;..		 2
1		            
1.1.1.1.3.   BS19     5*;1,17;..+28b 1        
1.1.1.2.1.   BS6(16) 5*;3;..
5*;1,2,17;..
21*;1,17;..
21*;1,2,17;..		 9
1
38
1		 5*;1,17;..
5*;1,2,17;..		 7
1		        
1.0.1.2.1. G1del BS28 5*; - ;.. 1     5*; - ;.. 1    
0.1.1.2.1. G3del BS29 -;1,17;..
-;1,2,17;..		 1
2		            
1.1.1.2.2.   BS15(20)     21*;1,17;..
5*;1,17;..		 1
1		        
1.1.1.2.3.   BS8 21*;1,17;..
21*;1,2,17;..		 1
3		     21*;1,17;..
5*;1,17;..		 2
6		 21*;1,17;..
21*;1,2,17;..
5*;3;..		 392
120
101
1.1.2.1.1.   BS3 5*;3;23
5*;3;..		 2
5		            
1.1.2.1.2.   BS4 5*;3;23
5,14,28*;3;23		 6
1		            
1.0.2.1.2. G1del BS30 5*; - ;23 1            
1.1.2.1.3.   BS1(14) 5*;3;23
5*;3;..
21*;1,2,17;23
21*;1,17;23		 44
2
1
1		 5*;3;23
5*;1,17;..		 1
1		        
1.2.1.2.1.   BS17     5*;1,17;..
6*;1,17;..		 6
1		 5*;1,17;.. 20    
1.2.1.2.2.   BS18     5*;1,17;.. 10        
1.2.1.2.3.   BS31         5*;1,17;..
6*;1,17;..		 1
1		    
1.3.1.2.1.   BS21     5*;1,17;.. 1        
1.3.1.2.2.   BS22     5*;1,17;.. 2        
1.3.1.2.3.   BS32         5*;1,17;.. 17    
1.33.1.2.1. G1dupl BS33         5*;1,17;.. 1    
2.1.1.1.2.   BS10 15,16*;1,17;.. 3            
2.1.1.2.1.   BS5 5*;3;.. 3     6,24*;1,17;.. 9    
2.1.1.2.2.   BS11 15,16*;1,17;.. 5            
2.1.1.2.3.   BS27     5*;1,17;.. 1 6,24*;1,17;.. 6 15,16*;1,17;.. 54
2.1.1.2.4.   BS13 6,24*;1,17,27,28;..a 1 6,24*;1,17,27,28;..a
6,24*;1,17;..		 1
1		 6,24*;1,17;.. 11    
2.1.2.1.1.   BS9 15*;1,17;.. 1 15*;1,17;..
5*;1,17; ..		 2
1		        
2.1.2.1.3.   BS2 5*;3;23 6            
2.2.1.1.1.   BS34         15*;1,17; .. 6    
2.2.1.2.2.   BS23(26)     6*,1,17;..
15*;1,17;..+28b		 1
1		        
2.2.1.2.3.   BS35         15*;1,17;.. 1    
2.3.1.2.2.   BS24     6*;1,17;.. 1        
2.3.1.2.4.   BS36         6,24*;1,17;.. 1    
2.5.1.1.1.   BS37         5*;1,17;.. 38    
2.5.1.1.3.   BS38         5*;1,17;.. 1    
2.5.1.2.3.   BS39         5*;1,17;.. 1    
3.1.1.1.1.   BS40         5*;1,17;.. 1    
4.1.1.2.3.   BS41         5*;1,17;.. 3    
4.4.1.1.3.   BS25     5*;1,17;.. 2        
4.4.1.2.3.   BS42         5*;1,17;.. 6    
6.11.1.1.1. G1dupl BS43         5*;1,17;.. 2    
6.1.1.2.3.   BS44         5*;1,17;.. 2    
6.3.1.2.2.   BS45         5*;1,17;.. 2    
6.3.1.2.3.   BS46         5*;1,17;.. 1    
1.1.2.2.3.   BS47             5*;3;.. 1
1.1.11.22.33. GP-G2-G4dupld BS48             21*;1,17;..
5*;3;..		 4
9
1.0.1.2.3. G1del BS49             21*;-;.. 46
1.1.0.0.0. GP-G2-G4deld BS50             21*;1,2,17;- 1c
1.1.2.1.15. G4dupl BS51             5*;3,23 56
2.1.112.221.335. GP-G2-G4tripld BS52             15,16*;1,17;23 3
2.1.11.22.13. GP-G2-G4dupld BS53             15,16*;1,17;.. 109
2.1.11.22.33. GP-G2-G4dupld BS54             15,16*;1,17;.. 46
2.1.1.2.0. G4del BS55             15,16*;1,17;.. 9
Total number of chromosomes 144 46 140 950

N: number of chromosomes
a It has been unambiguously demonstrated that the Gm (27and 28) allotypes are located on gamma1 chain in that haplotype [5]
b The exact location of the Gm (28), unexpectedly present in these haplotypes on one or the other IgG subclass, is so far unknown.
c Excluded from calculations.
d Further analysis is needed to check if the multigene deletion (BS50), duplications (BS48, BS53, BS54) and triplication (BS52) encompass other IGHC genes.

IMGT notes:
(1) See Part 1 for the sizes of the restriction fragments corresponding to the BamHI-SacI RFLP alleles (C* alleles) and the description of BS haplotypes. In this table the two alleles G3*C2 and G3*C5 are not differentiated and are described as "2".
(2) For convenience, G3m allotypes are written in the simplified form [1] (see Part 1): 5* for G3m 5,10,11,13,14,26,27; 5,14,28* for G3m 5,14,26,27,28; 6* for G3m 5,6,10,11,14,26,27; 6,24* for G3m 5,6,11,24,26; 15* for G3m 10,11,13,15,27; 15,16* for G3m 10,11,13,15,16,27; and 21* for G3m 21,26,27,28.
References:
[1] Ghanem, N. et al., Eur. J. Immunol., 18, 1067-1072 (1988).
[2] Dard, P. et al., Hum. Genet., 98, 36-47 (1996).
[3] Osipova, L.P. et al., Hum. Genet., 105, 530-541 (1999).
[4] Ghanem, N. et al., Hum. Genet., 83, 37-44 (1989).
[5] Loghem, E., van et al., Vox. Sang., 43, 301-309 (1982).