U ovom radu analizirana je učestalost mutacije gena CYP21A2 u egzonu 7 (V281L) unutar skupine zdravih ispitanika pozitivnih za jedan ili kombinaciju alela (A*33:01, B*14:02, DRB1*01:02, DRB1*03:01) (N=177), kao i skupine ispitanika negativnih za navedene alele HLA (N=40). Svim ispitanicima određeno je prisustvo/odsustvo mutacije CYP21A2 Ex7 V281L lančanom reakcijom polimerazom i početnicama specifičnim za zdravi/mutirani alel. Mutacija gena CYP21A2 Ex7 V281L pokazala je statistički vrlo značajnu povezanost (p<0,0001) s alelom B*14:02, haplotipom HLA-B*14:02-DRB1*01:02, haplotipom HLAA* 33:01-B*14:02 i haplotipom HLA-A*33:01-B*14:02-DRB1*01:02. Mutacija CYP21A2 Ex7 V281L nije statistički značajno češće prisutna među ispitanicima nositeljima haplotipa HLA-B*14:02-DRB1*03:01 (p>0,05), dok ispitanici pozitivni za haplotip HLA-A*33:01- B*14:02-DRB1*03:01 imaju statistički značajno veću šansu da će nositi i praćenu mutaciju (p=0,0040).

This study represents the frequency analysis of the CYP21A2 gene mutation located in the exon 7 (V281L). Analysis was preformed in the group of healthy subjects who carried one or a combination of the following alleles: A*33:01, B*14:02, DRB1*01:02, DRB1*03:01 (N=177), as well as within a group of subjects who did not carry any of the above mentioned HLA alleles (N=40). The presence/absence of the CYP21A2 Ex7 V281L mutation was determined for all subjects using the polymerase chain reaction and primers specific for wild type/mutant allele. The CYP21A2 gene Ex7 V281L mutation has shown very significant association (p<0,0001) with B*14:02 allele, HLA-B*14:02-DRB1*01:02 haplotype, HLAA* 33:01-B*14:02 haplotype and HLA-A*33:01-B*14:02-DRB1*01:02 haplotype. The CYP21A2 gene Ex7 V281L mutation was not significantly more present among subjects who carried HLA-B*14:02-DRB1*03:01 haplotype (p>0,05), while the subjects positive for the HLA-A*33:01-B*14:02-DRB1*03:01 haplotype had a significantly higher probability of carrying the analysed mutation as well (p=0,0040).