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    題名: Prenatal three-dimensional/four-dimensional sonographic demonstration of facial dysmorphisms associated with holoprosencephaly
    作者: Chen, CP;Shih, JC;Hsu, CY;Chen, CY;Huang, JK;Wang, WS
    貢獻者: 中醫學院;Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan;Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan;Natl Yang Ming Univ, Sch Nursing, Inst Clin Nursing, Sect 2, Taipei 112, Taiwan;China Med Univ, Coll Chinese Med, Taichung, Taiwan;Natl Taiwan Univ Hosp, Dept Obstet & Gynecol, Taipei, Taiwan;Mackay Mem Hosp, Dept Radiol, Taipei, Taiwan
    日期: 2005
    上傳時間: 2010-09-24 13:40:40 (UTC+8)
    出版者: JOHN WILEY & SONS INC
    摘要: Background: Thiopurine drugs are used as immunosuppressant or cytotoxic drugs. Thiopurine S-methyltransferase (TPMT) methylates and thereby modulates the therapeutic and toxic effects of these drugs. The activity of TPMT is affected by genetic polymorphism of TPMT alleles, and these alleles have not been studied in Tibetans and Bolivians. Objectives: To analyse the TPMT allelic frequencies in Tibetans and Bolivians. Methods: We developed an inexpensive method for collecting blood and extracting genomic DNA. Genomic DNA was extracted from blood spots of 50 Tibetans and 115 Bolivians. The frequencies of allelic variants of TPMT gene (TPMT*1 to TPMT*8) were determined using polymerase chain reaction-restriction fragment length polymorphism technique. Results: The allelic frequencies of TPMT*1 were 99 and 93.48% for Tibetans and Bolivians, respectively. The corresponding allelic frequencies of TPMT*3A were 0 and 6.52% and those of TPMT*3C were 1.0 and 0%. No TPMT*2, 3B, 3D, 4-8 were found in these two populations. Conclusions: As with Caucasian populations, TPMT*3A is the most prevalent mutant allele in Bolivians. Our results may be of value in helping to guide the prescription of thiopurine drugs in these populations.
    關聯: JOURNAL OF CLINICAL ULTRASOUND 33(6):312-318
    顯示於類別:[中醫學系暨碩博班] 期刊論文

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