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Identification of a New Single-Nucleotide Mutation on the Hypoxanthine-Guanine Phosphoribosyltransferase Gene from 983 Cases with Gout in Taiwan
CHIEN-HUI WU, HAN-MING LAI, MING-CHI YANG, CHIH-CHUANG LIAW, SHUN-JEN CHANG, YING-CHIN KO, and CHUNG-JEN CHEN ABSTRACT. Objective. The frequency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency within the gout-affected population in Taiwan was unclear. We evaluated its frequency and sought to identify a new genetic variation in a case with HPRT deficiency. Methods. From 2004 to 2005, a total of 983 patients with gout were followed among outpatients attending the Department of Rheumatology. Among these, 12 cases were suspected to have HPRT deficiency, and HPRT activity was examined by HPLC. In the index case found to have HPRT deficiency, genetic variation was analyzed by RT-PCR, direct sequencing, and SSCP. Results. Only a single case proved to have partial HPRT deficiency among 12 suspicious cases. Both cDNA and genomic DNA analysis identified a new mutation on exon 2 with T to G transition at cDNA base 93, resulting in a change from aspartic acid to glutamic acid at position 31. It was designated as HPRTChia-Yi, from our case's residence at Chia-Yi Hsein, Taiwan. Conclusion. According to this hospital-based survey, HPRT deficiency is a rare trait in the Taiwanese gouty population. However, our index case with HPRT deficiency provided the first proven HPRT mutation in non-aboriginal Taiwanese patients with gout, which was different from a mutation previously found in aboriginal Taiwanese. Hence, in non-aboriginal Taiwanese gouty patients with HPRT deficiency, exon 2, rather than just exon 3, should be analyzed. (First Release Feb 15 2007; J Rheumatol 2007;34:794–7) Key Indexing Terms:
GOUT From the Chang Gung Memorial Hospital–Kaohsiung Medical Center, Chang Gung University College of Medicine; Chang Gung Memorial Hospital at Chia-Yi, Chang Gung University College of Medicine; and Kaohsiung Medical University and National Health Research Institutes, Kaohsiung, Taiwan. Supported by Chang Gung Memorial Hospital Grant CMRP 83014. C.H. Wu, MD, Senior Attending Physician, Division of Rheumatology, Allergy and Immunology, Department of Internal Medicine, Chang Gung Memorial Hospital at Chia-Yi, Chang Gung University College of Medicine; H.M. Lai, MD, Senior Attending Physician, Division of Rheumatology, Allergy and Immunology, Department of Internal Medicine, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Chang Gung University College of Medicine; M.C. Yang, MSc, Senior Research Assistant, Division of Rheumatology, Allergy and Immunology, Department of Internal Medicine, Chang Gung Memorial Hospital–Kaohsiung Medical Center, Chang Gung University College of Medicine; C.C. Liaw, PhD, Assistant Professor, Chia Nan University of Pharmacy and Science (current address: Graduate Institute of Pharmaceutical Chemistry, China Medical University, Taichung, Taiwan); S.J. Chang, PhD, Associate Professor, Department of Public Health, Kaohsiung Medical University; Y.C. Ko, MD, PhD, Professor, Division of Environmental Health and Occupational Medicine and Center of Austronesian Health Research and Development, National Health Research Institutes, and Department of Public Health, Kaohsiung Medical University; C.J. Chen, MD, MSc, Associate Professor, Division of Rheumatology, Allergy and Immunology, Department of Internal Medicine, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Chang Gung University College of Medicine, Taiwan. Address reprint requests to Dr. C.J. Chen, Division of Rheumatology, Allergy and Immunology, Department of Internal Medicine, Chang Gung Memorial Hospital–Kaohsiung Medical Center, Chang Gung University College of Medicine. No 123, Ta-Pei Road, Niao-Sung Hsiang, Kaohsiung Hsein 833, Taiwan. E-mail: chungjen@adm.cgmh.org.tw Accepted for publication December 18, 2006.
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