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A novel HLA-DRB1 allele (DRB1★04SAM) in south american indians
Abstracts
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B-2.3 #37
ANALYSIS OF HLA CLASS II LOCI OF NATIVE HAWAIIANS USING PCR TYPING EAB Titus(l), C Ching(2), YK Paik(2), R Cann(3) and HA Erlich(1) (I) Department of Human Genetics, Roche Molecular Systems, Alameda, CA (2) Department of Pathology, St. Francis Medical Center, Honlulu, HI (3) Department of Genetics, John Burns School of Medicine, U. Hawaii, Honolulu, HI In the first extensive MHC Class II DNA typing of Native Hawaiians, pure Hawaiian and part-Hawaiian samples were typed at the DRB1, DQA1, DQBI and DPB 1 loci using PCR/SSOP methodologies. DNA was extracted from reticulocytes or hair from 7 pure Hawaiians and 32 part-Hawaiians and typed using published methods. Class II haplotypes were inferred from established linkage disequilibrium patterns. DR1, DR7 and DR10 were absent in pure Hawaiian samples, consistent with previous serological typing study of 108 Hawaiians and part-Hawaiians ~. DRwl4, absent in pure Hawaiians in the serological study I, typed as a novel DR 14 probe hybridization pattern, in our smnples, and is a potentially new DR14 allele. This DRI4 allele was associated with DQAI*0101-DQBI*0503 in 2 pure Hawaiians and 2 part-Hawaiians. Two common DR5 haplotypes in pure Hawaiians included DRBI*ll01-DQAI*0501DQB 1"0301 and DRB 1" 120 I-DQA 1"050 I-DQB 1 *0301. Other DRB 1 alleles included DR2 (* 1502), DR4 ('0403/6), DR6 (* 1301), DR8 (*0803), and DR9 ('0901). Unusual DR/DQ associations were found in both the pure and part-Hawaiian groups, which suggests selection for increased haplotype diversity. At the DPBI locus, 4 alleles ('0201, 0401, 0402 and 0501) were found in the pure Hawaiians. In addition, 6 others (*0101, "0301, "1301, "1601, "2001, "3901) and two potentially new DPB l*0101-like alleles were found in the part-Hawaiian group. 1. Paik YK et al. 1986.IN:HLA in Asia-Oceania:Proceedings of the Third Asia-Oceania Histocompatibility Workshop and Conference. Aizawa et al., Eds. Japan.
B-2.3 #38
NOVEL HLA-DRBI A L L E L E (DRBI*O4SAM) IN SOUTH AMERICAN INDIANS. S Z h a n u , MA Fernandez-Vifia, M F a l c o , M C e r n a , E Raimondi and P Stastny, Department of Internal Medicine, U n i v e r s i t y of Texas Southwestern Medical Center, D a l l a s , Texas and Primer Centro A r g e n t i n o de Inmunogenetica, Buenos Aires, Argentina. In a study of three Indian tribes (Eastern Toba, Mataco and Toba-Pilaga) from Gran Chaco in North East Argentina, DRB1*0411 and a n e w a l l e l e (DRBI*04SAM) were the most frequent alleles of the DR4 family. D R B I * 0 4 S A M w a s initially recognized by a distinct pattern of h y b r i d i z a t i o n with o l i g o n u c l e o t i d e probes. N o w w e have sequenced this n e w allele from a DRBI*04SAM homozygous subject from the Toba tribe. PCR products obtained with D R 4 - D R B l - s p e c i f i c primers w e r e purified and cloned, and six clones were selected for sequencing by the dideoxy c h a i n - t e r m i n a t i o n method. The nucleotide sequence from codon 13 to codon 86 confirmed the results obtained with SSOP. D R B I * 0 4 S A M is different from DRB1*0411 in codon 86, from DRBI*0407 in codon 57 and from DRBI*0405 in codon 74. Since DRBI*0405 w a s a b s e n t in this population, DRBI*0407 or DRBI*0411 are the likely precursors. DRB1*0411, the more frequent a l l e l e , h a s a l s o b e e n described in Australia and could have arrived in South America from the Pacific. D R B I * 0 4 S A M has thus far only been seen in South America and could have originated there, perhaps by gene conversion from DRBI*0411. A
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B-2.3 #37
ANALYSIS OF HLA CLASS II LOCI OF NATIVE HAWAIIANS USING PCR TYPING EAB Titus(l), C Ching(2), YK Paik(2), R Cann(3) and HA Erlich(1) (I) Department of Human Genetics, Roche Molecular Systems, Alameda, CA (2) Department of Pathology, St. Francis Medical Center, Honlulu, HI (3) Department of Genetics, John Burns School of Medicine, U. Hawaii, Honolulu, HI In the first extensive MHC Class II DNA typing of Native Hawaiians, pure Hawaiian and part-Hawaiian samples were typed at the DRB1, DQA1, DQBI and DPB 1 loci using PCR/SSOP methodologies. DNA was extracted from reticulocytes or hair from 7 pure Hawaiians and 32 part-Hawaiians and typed using published methods. Class II haplotypes were inferred from established linkage disequilibrium patterns. DR1, DR7 and DR10 were absent in pure Hawaiian samples, consistent with previous serological typing study of 108 Hawaiians and part-Hawaiians ~. DRwl4, absent in pure Hawaiians in the serological study I, typed as a novel DR 14 probe hybridization pattern, in our smnples, and is a potentially new DR14 allele. This DRI4 allele was associated with DQAI*0101-DQBI*0503 in 2 pure Hawaiians and 2 part-Hawaiians. Two common DR5 haplotypes in pure Hawaiians included DRBI*ll01-DQAI*0501DQB 1"0301 and DRB 1" 120 I-DQA 1"050 I-DQB 1 *0301. Other DRB 1 alleles included DR2 (* 1502), DR4 ('0403/6), DR6 (* 1301), DR8 (*0803), and DR9 ('0901). Unusual DR/DQ associations were found in both the pure and part-Hawaiian groups, which suggests selection for increased haplotype diversity. At the DPBI locus, 4 alleles ('0201, 0401, 0402 and 0501) were found in the pure Hawaiians. In addition, 6 others (*0101, "0301, "1301, "1601, "2001, "3901) and two potentially new DPB l*0101-like alleles were found in the part-Hawaiian group. 1. Paik YK et al. 1986.IN:HLA in Asia-Oceania:Proceedings of the Third Asia-Oceania Histocompatibility Workshop and Conference. Aizawa et al., Eds. Japan.
B-2.3 #38
NOVEL HLA-DRBI A L L E L E (DRBI*O4SAM) IN SOUTH AMERICAN INDIANS. S Z h a n u , MA Fernandez-Vifia, M F a l c o , M C e r n a , E Raimondi and P Stastny, Department of Internal Medicine, U n i v e r s i t y of Texas Southwestern Medical Center, D a l l a s , Texas and Primer Centro A r g e n t i n o de Inmunogenetica, Buenos Aires, Argentina. In a study of three Indian tribes (Eastern Toba, Mataco and Toba-Pilaga) from Gran Chaco in North East Argentina, DRB1*0411 and a n e w a l l e l e (DRBI*04SAM) were the most frequent alleles of the DR4 family. D R B I * 0 4 S A M w a s initially recognized by a distinct pattern of h y b r i d i z a t i o n with o l i g o n u c l e o t i d e probes. N o w w e have sequenced this n e w allele from a DRBI*04SAM homozygous subject from the Toba tribe. PCR products obtained with D R 4 - D R B l - s p e c i f i c primers w e r e purified and cloned, and six clones were selected for sequencing by the dideoxy c h a i n - t e r m i n a t i o n method. The nucleotide sequence from codon 13 to codon 86 confirmed the results obtained with SSOP. D R B I * 0 4 S A M is different from DRB1*0411 in codon 86, from DRBI*0407 in codon 57 and from DRBI*0405 in codon 74. Since DRBI*0405 w a s a b s e n t in this population, DRBI*0407 or DRBI*0411 are the likely precursors. DRB1*0411, the more frequent a l l e l e , h a s a l s o b e e n described in Australia and could have arrived in South America from the Pacific. D R B I * 0 4 S A M has thus far only been seen in South America and could have originated there, perhaps by gene conversion from DRBI*0411. A