PMID- 16884876 OWN - NLM STAT- MEDLINE DCOM- 20061128 LR - 20211203 IS - 0379-0738 (Print) IS - 0379-0738 (Linking) VI - 162 IP - 1-3 DP - 2006 Oct 16 TI - Application of HLA-DRB1 genotyping by oligonucleotide micro-array technology in forensic medicine. PG - 66-73 AB - The human leukocyte antigen (HLA) system is known to be the most complex polymorphic system in the human genome. Among all of the HLA loci, HLA-DRB1 has the second largest number of alleles. The purpose of this study is to develop an oligonucleotide micro-array based HLA-DRB1 typing system for use in forensic identification, anthropology, tissue transplantation, and other genetic research fields. The system was developed by analyzing the HLA-DRB1 (DRB1) genotypes in 1198 unrelated healthy Chinese Han individuals originating from various parts of China and residing in Shanghai, China. METHOD: Polymerase chain reaction (PCR) coupled with the oligonucleotide micro-array technology was used to detect and type HLA-DRB1 alleles of the sample individuals. The reliability, sensitivity, consistency and specificity were evaluated for use in forensic identification. Furthermore, a meta-analysis was carried out by comparing the allele frequencies of the HLA-DRB1 locus with those of other Chinese Han groups, Chinese minorities and other ethnic populations. RESULTS: All the DNA samples yielded a 273 bp amplification product, with no other amplification products in this length range. The minimum quantity of DNA detected by this method is 15 ng in a PCR reaction system of 25 microl. The population studied appeared to be not in Hardy-Weinberg equilibrium. Observed heterozygosity (Ho), expected heterozygosity (He), expected probability of exclusion (PE), polymorphic information content (PIC), and discrimination power (DP) of the HLA-DRB1 locus from the Shanghai Han ethnic group were evaluated to be 0.8022, 0.8870, 0.7741, 0.8771, 0.9750, respectively. A total of 25 HLA-DRB1 alleles were identified. HLA-DRB1*09XX, *04XX, *12XX and *15XX were the most frequent DRB1 alleles, which were observed in 58.76% of the sample. One hundred and sixteen genotypes were found. The five most frequent genotypes were: *04XX/*04XX (0.0626), *09XX/*09XX (0.0593), *04XX/*09XX (0.0551), *09XX/*15XX (0.0384) and *08XX/*12XX (0.0351). The meta-analysis showed that there were uniquely distributed features of DRB1 alleles among various ethnic populations and among the studied population groups from various regions with the same ethnic origin. CONCLUSIONS: An HLA-DRB1 genotyping system has been developed and established based on the oligonucleotide micro-array technology. The HLA-DRB1 typing of the Han population in Shanghai has revealed a relatively high heterogeneity. Information obtained in this study will be useful for medical and forensic applications as well as in anthropology research. Large-scale micro-array detection is highly accurate and reliable for DNA-based HLA-DRB1 genotyping. These results suggest that HLA-DRB1 DNA polymorphisms and the database of the Shanghai Han group have useful applications in processing forensic casework (as personal identification, paternity test), tracing population migration and genetic diagnosis. FAU - Jiang, Bin AU - Jiang B AD - State Key Laboratory of Genetic Engineering, Institute of Genetics, School of Life Science, Fudan University, Shanghai, PR China. FAU - Li, Yao AU - Li Y FAU - Wu, Hai AU - Wu H FAU - He, Xianmin AU - He X FAU - Li, Chengtao AU - Li C FAU - Li, Li AU - Li L FAU - Tang, Rong AU - Tang R FAU - Xie, Yi AU - Xie Y FAU - Mao, Yumin AU - Mao Y LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20060801 PL - Ireland TA - Forensic Sci Int JT - Forensic science international JID - 7902034 RN - 0 (DNA Primers) RN - 0 (DNA Probes) RN - 0 (HLA-DR Antigens) RN - 0 (HLA-DRB1 Chains) SB - IM MH - Animals MH - China MH - DNA Fingerprinting MH - DNA Primers MH - DNA Probes MH - Ethnicity/genetics MH - Gene Frequency MH - *Genetics, Population MH - Genotype MH - HLA-DR Antigens/blood/*genetics MH - HLA-DRB1 Chains MH - Humans MH - Oligonucleotide Array Sequence Analysis/*methods MH - Polymerase Chain Reaction EDAT- 2006/08/04 09:00 MHDA- 2006/12/09 09:00 CRDT- 2006/08/04 09:00 PHST- 2006/08/04 09:00 [pubmed] PHST- 2006/12/09 09:00 [medline] PHST- 2006/08/04 09:00 [entrez] AID - S0379-0738(06)00384-7 [pii] AID - 10.1016/j.forsciint.2006.06.041 [doi] PST - ppublish SO - Forensic Sci Int. 2006 Oct 16;162(1-3):66-73. doi: 10.1016/j.forsciint.2006.06.041. Epub 2006 Aug 1.