DETECTION OF THREE NOVEL ALLELES: DRB1*1130, DRB1*13072 AND DRB1*1331.
YS Lin, G Coquillard, TF Tang, J Ng, R Hartzman, and CK Hurley
C.W. Bill Young/ DOD Marrow Donor Program, Kensington MD.
Sequence-specific-oligo-probes typing has been used in
our program for more than eight years in routine class II DR typing. Here
we report three novel alleles found in potential marrow donors by SSOP
in the past year. These alleles were later verified with PCR-sequencing.
The generic typing of sample GN00153 was DRB1*04, 1122; DRB3*02 and DRB4*01.
Further amplifications were carried out with the group specific primers
for DRB1*04, DRB1*11, DRB3*, DRB4*. DRB1*11 specific primer set failed
to amplify the expected allele DRB1*1122, however, the SSOP pattern of
specific DRB3* PCR products showed a complete pattern of DRB3*0202 plus
an additional allele pattern. Direct sequencing identified a hybrid sequence
in which codons 9 - 14 were identical to a DRB3*02 allele and remainder
of the sequence identical to DRB1*11011. This unique sequence was given
the name DRB1*1130. Sample GN00185 was originally defined as DRB1*06 new.
Codons 57 and 58 (GAC GCT) of this allele, resembled the sequence found
in DRB1*02 alleles. The sequence substitution, however, does not affect
the encoded polypeptide. The allele was assigned as DRB1*13072. GN00133
and GN00138 are two unrelated African American individuals carrying a DRB1*1302
variant. The new allele differs from DRB1*1302 at codon 57, GTC verses
GAT. This novel allele was assigned as DRB1*1331. The combination of group
specific amplification and the reactivity pattern of SSOP make them useful
to analyze polymorphism of the HLA DR genes.