HLA-DQA1 allele and suballele typing using noncoding sequence polymorphisms application to 4AOHW cell panel typing

Limm, Teresa M.; Ashdown, M. Luisa; Naughton, Melinda J.; McGinnis, Malcolm D.; Simons, Margaret

doi:10.1016/0198-8859(93)90520-b

Cited by 12 publications

(1 citation statement)

References 17 publications

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“…Direct sequencing of polymerase chain reaction (PCR) products comprising the polymorphic regions of HLA genes is the general strategy used for SBT methods in HLA typing laboratories [10 -12]. Although, various PCR-based typing methods have been described for DQA1 alleles [13][14][15][16][17][18][19], only few used the SBT approach [20 -24]. This is primarily because of an in-frame three base-pair deletion in 13 of 25 known DQA1 alleles.…”

Section: Introductionmentioning

confidence: 99%

A sequencing-based typing method for HLA-DQA1 alleles

Rajalingam

Reed

2004

Human Immunology

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Section: Introductionmentioning

confidence: 99%

A sequencing-based typing method for HLA-DQA1 alleles

Rajalingam

Reed

2004

Human Immunology

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Ancient, highly polymorphic human major histocompatibility complex DQA1 intron sequences

McGinnis¹,

Lebo

Quinn³

et al. 1994

Am. J. Med. Genet.

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A 438 basepair intron 1 sequence adjacent to exon 2 in the human major histocompatibility complex DQA1 gene defined 16 allelic variants in 69 individuals from wide ethnic backgrounds. In contrast, the most variable coding region spanned by the 247 basepair exon 2 defined 11 allelic variants. Our phylogenetic human intron 1 tree derived by the Bootstrap algorithm reflects the same relative allelic relationships as the reported DQA1 exon 2 tree [Gyllensten and Erlich, Hum Immunol 36:1-10, 1989]. Thus 3' DQA1 intron 1 and exon 2 have cosegregated since divergence of the human races. Comparison of human alleles to a Rhesus monkey DQA1 first intron sequence found only 10 nucleotide substitutions unique to Rhesus, with the other 428 positions (98%) found in at least one human allele. This high degree of homology reflects the evolutionary stability of intron sequences since these two species diverged over 20 million years ago. Because more intron 1 alleles exist than exon 2 alleles, these polymorphic introns can be used to improve tissue typing for transplantation, paternity testing, and forensics and to derive more complete phylogenetic trees. These results suggest that introns represent a previously underutilized polymorphic resource.

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Sequence variations in the transcriptional regulatory region and intron1 of HLA-DQB1 gene and their linkage in southern Chinese ethnic groups

Liu

et al. 2005

Immunogenetics

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Sequence polymorphism in the transcriptional regulatory region extending to intron1 (DQRRI1) of HLA-DQB1 gene, and their haplotypic distributions were investigated in southern Chinese populations. We cloned and sequenced a 1.1-kb segment containing the transcriptional regulatory region, exon1, and partial intron1 of HLA-DQB1 gene of 37 individuals from nine different ethnic groups in southern China. A high-density map of 162 polymorphisms, including 152 single nucleotide polymorphisms (SNPs) and 10 insertion-deletion polymorphisms, was revealed. By comparing these data with SNPs deposited in dbSNP database in National Center for Biotechnology Information and polymorphisms that have been reported, 66 polymorphisms were firstly reported. A total of 16 different haplotypes were detected based on these 162 polymorphisms. The distribution of 16 alleles of DQRRI1 as well as their linkage with DQB1 exon2 alleles was also investigated based on the population study and phylogenetic analysis. Tight linkage between these two regions were discovered, as each of DQB1*02, DQB1*03, DQB1*04, DQB1*05, and DQB1*06 alleles was seen to be linked with specific DQRRI1 allele. Our study showed different pattern of transcriptional regulatory region, exon1, and intron1 of different DQB1 alleles.

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HLA-DQA1 allele and suballele typing using noncoding sequence polymorphisms application to 4AOHW cell panel typing

Cited by 12 publications

References 17 publications

A sequencing-based typing method for HLA-DQA1 alleles

A sequencing-based typing method for HLA-DQA1 alleles

Ancient, highly polymorphic human major histocompatibility complex DQA1 intron sequences

Sequence variations in the transcriptional regulatory region and intron1 of HLA-DQB1 gene and their linkage in southern Chinese ethnic groups

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