L. Padyukov et al., Distribution of human kappa locus IGKV2-29 and IGKV2D-29 alleles in Swedish Caucasians and Hong Kong Chinese, IMMUNOGENET, 53(1), 2001, pp. 22-30
Polymorphism in the IGKV2-29 gene was shown to decrease the recombination f
requency in B cells and to be important for immune responses to Haemophilus
influenzae type b polysaccharide. By using the combination of PCR and rest
riction enzyme mapping, the distribution of IGKV2D-29 and IGKV2-29 gene all
eles was estimated in two geographically and ethnically different groups. W
e found that V2D-29*01 homozygous individuals were most common in Swedish C
aucasians (82%), but less common in the Chinese population of Hong Kong (28
%). The homozygous V2D-29*02 genotype was found in 19% Chinese, but only in
one Caucasian (1%). The frequency of the heterozygous V2D-29*01/V2D-29*02
genotype was also higher in the Chinese population (46%) compared with the
Caucasians (7%). V2-29*01 homozygosity was more frequent among Caucasians (
85%) than among Chinese (19%). In contrast, homozygous V2-29*02 individuals
were over-represented in the Chinese population (18%), whereas only one wa
s found among Caucasians (1%). Heterozygous V2-29*01/V2-29*02 individuals w
ere also more common in the Chinese (63%) than the Caucasian (15%) populati
on. Most Caucasians had the combination of V20-29*01/V20-29*01 + V2-29*01/V
2-29*01 (74%), while the most common genotype for Chinese was V2D-29*01/V2D
-29*02+V2-29*01/V2-29*02 (41%). Analysis of the association of V2D-29*02 an
d V2-29*02 alleles demonstrated a high degree of linkage, as for V2D-29*01
with V2-29*01. These data show a significant difference in the distribution
of IGKV2D-29 and IGKV2-29 alleles among Swedish Caucasians and Hong Kong C
hinese. This may help to explain differences in the occurrence of H. influe
nzae type b infection in the two populations. Evaluated methods for IGKV2D-
29 and IGKV2-29 allele detection can be used for the screening allele polym
orphisms in other particular patient groups.