A new DRB1 allele DRB1*1107 – a combination of DRB1*11 and DRB1*03

Middleton, Derek; Hughes, David J.; Williams, Fionnuala; Graham, Colin A.; Martı́n, Javier; Savage, David A.

doi:10.1111/j.1399-0039.1993.tb02187.x

Cited by 25 publications

(7 citation statements)

References 10 publications

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“…Genomic DNA for all the subjects was extracted from the buffy coats of peripheral blood by the salting‐out method ( 28). All subjects were previously HLA‐typed at the HLA‐A, ‐B, ‐C and ‐DR loci using an allele group PCR‐SSOP typing scheme ( 29–33).…”

Section: Methodsmentioning

confidence: 99%

Development of a PCR‐SSOP approach capable of defining the natural killer cell inhibitory receptor (KIR) gene sequence repertoires

et al. 2000

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A molecular typing method based on polymerase chain reaction (PCR) amplification of three different target domains (immunoglobulin domains 1 and 3, and the transmembrane-cytoplasmic domain), followed by hybridisation with 26 digoxigenin-labelled sequence-specific oligonucleotide probes (SSOP) has been established for the polymorphic killer inhibitory receptor (KIR) genes. In addition to identifying the 12 KIR subfamilies, our PCR-SSOP typing approach could also distinguish the putative alleles, NKB1 and NKAT3, that comprise the KIR3DL1 subfamily. Ninety unrelated blood donors and 13 families (52 individuals), including both parents, were subjected to our KIR PCR-SSOP typing approach. All 12 KIR subfamilies, including a 2DS5 variant sequence, were present in the 90 individuals and displayed varied phenotype frequencies: 2DL1 (0.96), 2DL2 (0.31), 2DL3 (0.95), 2DS1 (0.56) 2DS2 (0.51), 2DS3 (0.27), 2DS4 (0.96), 2DS5v (0.35), 3DS1 (0.47), 3DL1 (0.96), 3DL2 (1.0) and 2DL4 (1.0). A total of 23 different KIR phenotypes were defined in this study, and 10 of these were only found on one occasion in one individual, indicating considerable diversity in the KIR phenotype profiles within the Irish population. Most individuals (93%) possessed the complement of inhibitory KIR specificities for the three well-defined HLA-B and -C ligands. An unusual probe pattern for 3DS1 was observed in 3 individuals indicating a variant 3DS1 gene sequence with changes at nucleotide positions 1185-1186, within the cytoplasmic domain. Sequencing analysis revealed a new single nucleotide polymorphism in exon 3 of 3DL1 NKB1(195, G-A) and a 22-bp deletion polymorphism in exon 5 of 2DS4 (nucleotides 777-798 deleted). A number of strong KIR associations were observed, namely 2DL1 with 2DL3, 2DS4 with 3DL1, 2DL2 with 2DS1/2DS2/2DS3, 2DS1 with 2DS3/2DS5v/3DS1, 2DS2 with 2DS3 and 2DS5v with 3DS1. Analysis of the KIR segregation observed in the 13 families confirmed these strong associations and permitted the definition of a number of partial KIR haplotypes, e.g. 2DL2-2DS1-2DS2-2DS3-3DL1. The segregation analysis concluded that at least 3 distinct gene loci encode 2DL1-4 and at least 4 gene loci encode the non-inhibitory KIR2DS1-2DS5. In the case of 3DL1-2 and 3DS1, our data suggests 3 gene loci, one for each subfamily.

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Section: Methodsmentioning

confidence: 99%

Development of a PCR‐SSOP approach capable of defining the natural killer cell inhibitory receptor (KIR) gene sequence repertoires

et al. 2000

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“…Four additional DR52-associated novel sequences have been recently identified (8-1 2). DRB1*1107 (group 3) is identical in sequence to DRBl * 1 1 alleles from codon 8-66 and from codon 59-92 it is identical to DRB1*0301 and 0303 (8). DRB1*1307 (group 1) is identical to 1101 except for codons 47 (TTC-tTAC) and 58 (GAG+GCC) (9,10).…”

Section: Discussionmentioning

confidence: 99%

Comprehensive typing of DR52 (DRB3)‐associated DRB1 and DRB3 alleles by PCR‐RFLP

et al. 1994

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The DR52-associated DRB1 and DRB3 alleles were resolved by PCR-RFLP. Second exon was amplified using four primer pairs (groups 1-4) for DRB1 and a pair for DRB3 alleles. Except for three endonucleases, all others had either none or only one site for a specific amplified product. Group 1 primers amplify 10 DRB1 alleles (DRB1*0302, 1101, 1302, 1303, 1305, 1307, 1402, 1403, 1407 and 1409). All but one pair, DRB1*1402 from 1409, could be resolved using seven endonucleases (ApaI, SacII, FokI, AvaII, BsaAI, BsrBI and SfaNI). Group 2 consisted of four alleles (DRB1*1201, 1202, 1404 and 1411) that can be resolved along with co-amplified DRB1*0804 and 0806 using five endonucleases (AvaII, SacII, FokI, HaeII and RsaI). Group 3 primers amplify 15 DRB1 alleles (DRB1*0301, 0303, 1102, 1103, 1104, 1107, 1301, 1304, 1306, 1308, 1401, 1405, 1406, 1408 and 14-New), which can be resolved using nine enzymes (KpnI, AvaII, FokI, SacII, HaeII, BsrBI, SfaNI, DdeI and RsaI). BsrBI, a new endonuclease, can resolve DRB1*1301 from 1306 and the previously unresolved allele DRB1*1103 from 1104. DRB1*1410, co-amplified with DR4 group-specific primers, is resolved with PstI which cleaves all DR4 alleles but not DRB1*1410. All four DRB3 alleles (DRB3*0101, 0201, 0202 and 0301) and their heterozygotes are resolved using two endonucleases, RsaI and HphI. Thirty-four DR52-associated alleles and their heterozygotes can be unambiguously resolved, except for DRB1*1402 from 1409.(ABSTRACT TRUNCATED AT 250 WORDS)

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“…DNA sequence analysis has identified additional diversity at the nucleotide and amino acid level in all DR52-associated DRB 1 allele families (4). The D R l l family consists of at least 11 DRBl alleles, 8 of which encode amino acid differences (5,6,7,8,9). One pair of DRI 1 alleles, DRBl*l 101 and * 1104, exhibits the dimorphism of glycine versus valine at codon 86 in the second exon which is typical of certain DRB allele pairs in other DR families such as DR2 (DRB 1 * 1501 / 1502), DR3 (DRB1*0302/0303), DR4 (DRB 1 *0401/0413, *0402/04 14, *0403 / 0407, *0404/ 0408, *0405 /04IO and *0411/0417), DR8 (DRB1*0801/0806 and *0802/0804), DR13 (DRB1*1301/1302), DR14 (DRB1*1401/1407 and *1402/1406) and DRB3 (DRB3*0201/0202).…”

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confidence: 99%

“…DNA sequencing was performed as previously described ( 1.9, using fluorescence-labeled dideoxynucleotide termination reagents supplied by ABI (Applied Biosystems Inc., Fullerton, CA). Amplification and sequencing primers for the second exon of DR52-associated DRBl alleles from nucleotides 36 through 273 were the same as previously described (8). Reactions were analyzed with an Applied Biosystems 373A Automated DNA Sequencer.…”

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Two new DR52‐associated alleles, DRB11111 and 1312, identified by PCR/SSOP and confirmed by DNA sequencing

et al. 1994

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A new DRB1 allele DRB11107 – a combination of DRB111 and DRB1*03

Cited by 25 publications

References 10 publications

Development of a PCR‐SSOP approach capable of defining the natural killer cell inhibitory receptor (KIR) gene sequence repertoires

Development of a PCR‐SSOP approach capable of defining the natural killer cell inhibitory receptor (KIR) gene sequence repertoires

Comprehensive typing of DR52 (DRB3)‐associated DRB1 and DRB3 alleles by PCR‐RFLP

Two new DR52‐associated alleles, DRB11111 and 1312, identified by PCR/SSOP and confirmed by DNA sequencing

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A new DRB1 allele DRB1*1107 – a combination of DRB1*11 and DRB1*03

Cited by 25 publications

References 10 publications

Development of a PCR‐SSOP approach capable of defining the natural killer cell inhibitory receptor (KIR) gene sequence repertoires

Development of a PCR‐SSOP approach capable of defining the natural killer cell inhibitory receptor (KIR) gene sequence repertoires

Comprehensive typing of DR52 (DRB3)‐associated DRB1 and DRB3 alleles by PCR‐RFLP

Two new DR52‐associated alleles, DRB1*1111 and *1312, identified by PCR/SSOP and confirmed by DNA sequencing

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A new DRB1 allele DRB11107 – a combination of DRB111 and DRB1*03

Two new DR52‐associated alleles, DRB11111 and 1312, identified by PCR/SSOP and confirmed by DNA sequencing