Tzu Chi Taiwan Marrow Donor Registry (TCTMDR) was established in 1993 to recruit and HLA-type volunteers who would be willing to donate bone marrow. TCTMDR is currently the largest marrow registry for Chinese in the world, with over 150,000 prospective donors registered as of July 1997. We present here the gene and haplotype frequencies based on 80,353 HLA class I-typed and 18,217 HLA class II-typed healthy Chinese in Taiwan. The resulting frequencies are used for estimating the probability of finding an HLA-matched donor for a patient. The common HLA class I antigens include A1 (gene frequency: 32.9%), A2 (29.7%), A24 (17.5%) and A33 (11.0%); B60 (18.1%), B46 (12.8%), B58 (9.8%) and B13 (7.8%); Cw3 (51.4%), Cw1 (11.6%) and Cw7 (8.6%). The common HLA class II antigens are DR4 (16.6%), DR9 (15.6%), and DR12 (14.0%); DQ7 (20.7%), DQ9 (12.7%), and DQ5 (12.1%). The common two-locus haplotypes observed with a P-value less than 0.001 are A2-B46 (haplotype frequency: 8.5%), A33-B58 (7.5%), A11-B60 (6.6%); B58-DR17 (7.0%), B46-DR9 (6.4%) and B60-DR4 (4.9%). The common three-locus haplotypes are A33-B58-DR17 (5.3%), A2-B46-DR9 (3.9%) and A11-B60-DR4 (2.0%). As expected, the gene frequency pattern of Taiwanese is more closely related to that of southern Hans than to the pattern of northern Hans, Japanese, Caucasians and African-Americans. Using our registry, 323 of 571 domestic patients (57%) successfully identified one or more matched donors. The empirical result correlated well with a mathematical simulation having an estimated 59% match when donor pool reaches 150,000.
Hirschsprung's disease (HSCR) is an intestinal development defect caused by multiple gene mutations. Under natural circumstances, the incidence in newborns is approximately 1/5000. It has been confirmed that Hirschsprung's disease is a neurocrest-derived disease, and disorders in the development and migration of neural crest cells may lead to the disease. To explore the key susceptibility genes in the development of Hirschsprung's disease, 8354 differentially expressed genes were identified by RNA sequencing in the colon tissues of EDNRBm1yzcm and wild mice, including 4346 upregulated genes and 4005 downregulated genes. Correspondingly, the results of RT–qPCR analysis showed good correlation with the transcriptome data. In addition, GO and KEGG enrichment results suggested that there were 8103 terms and 320 pathways in all DEGs. When P < 0.05, 1081 GO terms and 320 KEGG pathways reached a significant level. Finally, through the existing studies and the enrichment results of differentially expressed genes, it was determined that axon guidance and the focal adhesion pathway may be closely related to the occurrence of HSCR. This study analyzed and identified the differential genes in colonic tissues between EDNRBm1yzcm mice and wild mice, which provided new insight for further mining the potential pathogenic genes of Hirschsprung's disease.
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