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  • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
  • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
  • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
  • C12Q1/6881—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for tissue or cell typing, e.g. human leukocyte antigen [HLA] probes
• • C—CHEMISTRY; METALLURGY
  • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
  • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
  • C12Q2600/00—Oligonucleotides characterized by their use
  • C12Q2600/156—Polymorphic or mutational markers

Definitions

• the invention belongs to the field of genomics and biological information.
• the HLA genotype-SNP linkage database its construction method, the method for determining the SNP linkage relationship of HLA genes, the HLA typing method, and the HLA typing device.
• HLA Human leukocyte ant igen
• the system is closely related to the rejection of allogeneic organ transplantation. Studies have shown that the higher the HLA matching between donor and recipient, the higher the success rate of transplantation in organ transplantation (U. Shankarkumar. The Human Leukocyte Ant i gen (HLA) Sys tem. Int J Hum Genet, 4 (2) : 91-103 (2004) ).
• HLA genes There are many types of HLA genes (ie, alleles), and multiple types indicate that HLA has multiple alleles per locus. There are 1381 HLA-A types currently included in EBI, 1927 HLA-B, 960 HLA-C, 31 HLA-DRB1, and 127 HLA-DQB1. Differences between different types of sequences are small, typically a few SNPs (S ingle Nuc l eot ide Polymorphi sms, single nucleotide polymorphisms).
• This method of determining the SNP linkage relationship has a good effect and can accurately determine the SNP interlocking relationship.
• the second step is to integrate the linkage relationship between the two SNP loci obtained in the previous step, and connect the adjacent two SNP loci in turn, and extend continuously to determine the SNP linkage relationship of the entire exon (as shown in Fig. 1).
• This is a very critical step in the present invention. The more SNP linkage relationships are determined, the more false positives are brought, and the present invention uses a good method to determine the linkage of SNPs.
• the SNP linkage relationship of the three exons will be freely combined, the result of false positives, as shown in Fig. 3. Because of the artificial diploid, if the exon has two SNP linkages, then the two SNP linkages should be the SNP linkage components of the final HLA type, which should be included, and each linkage can only correspond to one. Type. Based on this principle, it can be seen from Fig.3 that for the exon 2, the types B*35: 67 and B*35: 43 cannot exist at the same time, B*46: 13: 01 and B*46: 01: 01 can not exist at the same time, the exon 3 and 4 are similar.

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• 2010
  • 2010-11-23 WO PCT/CN2010/001879 patent/WO2012068701A2/fr not_active Ceased
  • 2010-11-23 CN CN201080070269.7A patent/CN103221551B/zh active Active

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