https://scholars.lib.ntu.edu.tw/handle/123456789/511404
標題: | Association of novel chymotrypsin C gene variations and haplotypes in patients with chronic pancreatitis in Chinese in Taiwan | 作者: | MING-CHU CHANG YU-TING CHANG SHU-CHEN WEI PO-CHIN LIANG I-SHIOW JAN Su Y.-N. Kuo C.-H. Wong J.-M. |
公開日期: | 2009 | 卷: | 9 | 期: | 3 | 起(迄)頁: | 287-292 | 來源出版物: | Pancreatology | 摘要: | Background/Aims: Variations and haplotypes of the chymotrypsin C (CTRC) gene in Chinese patients with chronic pancreatitis (CP) and control subjects with genotype-phenotype correlation were investigated. Methods: One hundred and twenty-six patients with CP were analyzed. The entire sequence of coding regions of exons 2, 3 and 7 and their neighboring intronic regions in introns 1, 2 and 6 of the CTRC gene were analyzed using PCR sequence-specific primers and direct sequencing. The exonic region of exon 7 and the neighboring intronic region of intron 6 were also analyzed in 90 geographically matched healthy control subjects. Results: In total, 4 novel variations were identified in exons 2, 3 and 7 in 3 CP patients. A total of 2.3% (3/126) of our CP patients carried variations of the CTRC gene. We also first identified six new intronic variations in intron 6 which had not been reported before. The GAGGGG, GAGGAG and GAGTAG haplotypes assembled by six locus intronic variations c.640-41/c.640-40/c.640-39/c.640-37/c.640-36/c.640-35 in intron 6 were associated with a significantly higher susceptibility risk of CP (OR 66.75, 37.00, and 9.37, respectively). Conclusion: Novel CTRC gene variations and haplotypes are associated with CP in a Chinese population. Copyright ? 2009 S. Karger AG, Basel and IAP. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/511404 | ISSN: | 1424-3903 | DOI: | 10.1159/000199437 | SDG/關鍵字: | adult; article; Chinese; chronic pancreatitis; chymotrypsin C gene; coding; controlled study; disease association; exon; female; gene sequence; genetic association; genetic identification; genetic susceptibility; genetic variability; genotype phenotype correlation; haplotype; human; intron; major clinical study; male; polymerase chain reaction; priority journal; Taiwan |
顯示於: | 醫學院附設醫院 (臺大醫院) |
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