Prenatal three-dimensional/four-dimensional sonographic demonstration of facial dysmorphisms associated with holoprosencephaly

CMUR > College of Chinese Medicine > School of Chinese Medicine > Journal articles > Item 310903500/28674

Please use this identifier to cite or link to this item: http://ir.cmu.edu.tw/ir/handle/310903500/28674

Title:	Prenatal three-dimensional/four-dimensional sonographic demonstration of facial dysmorphisms associated with holoprosencephaly
Authors:	Chen, CP;Shih, JC;Hsu, CY;Chen, CY;Huang, JK;Wang, WS
Contributors:	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
Date:	2005
Issue Date:	2010-09-24 13:40:40 (UTC+8)
Publisher:	JOHN WILEY & SONS INC
Abstract:	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 (TPMT1 to TPMT8) were determined using polymerase chain reaction-restriction fragment length polymorphism technique. Results: The allelic frequencies of TPMT1 were 99 and 93.48% for Tibetans and Bolivians, respectively. The corresponding allelic frequencies of TPMT3A were 0 and 6.52% and those of TPMT3C were 1.0 and 0%. No TPMT2, 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.
Relation:	JOURNAL OF CLINICAL ULTRASOUND 33(6):312-318
Appears in Collections:	[School of Chinese Medicine] Journal articles

Files in This Item:

There are no files associated with this item.

Loading...