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    題名: Characteristics of medical waste in Taiwan
    作者: Kuo, HW;Shu, SL;Wu, CC;Lai, JS
    貢獻者: 公共衛生學院環醫所;China Med Coll, Inst Environm Hlth, Taichung, Taiwan
    日期: 1999
    上傳時間: 2010-09-24 13:58:10 (UTC+8)
    出版者: KLUWER ACADEMIC PUBL
    摘要: Objective. A new single nucleotide change of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene on coding region has been identified from a Taiwanese aboriginal family with gout, The mutation was used to screen 27 members of the family, 22 Tsou, 70 Atayal, and 76 Bunun children, the elders for whom had been found to have a high prevalence of gout. Methods. An entire peptide of HPRT coding region was directly sequenced from the cDNA of a patient with severe gout, and by using polymerase chain reaction and restriction fragment length polymorphism to screen the other participants. Results, A new nucleotide change located at nucleotide 152 (G to A transition) was found that predicted an arginine to glutamine substitution at amino acid 51. This variant was named HPRTTsou, and was found in 3 women and 3 men among the patient's 7 siblings, 2 boys and 2 girls among the 8 children of the siblings, and one female Tsou (4.5%, 1/22) and one female Atayal (1.4%, 1/70), The serum uric acid concentration among male HPRTTsou carriers in the patient's family was significantly higher than among those who had at least one HPRT gene that did not have HPRT,ou. Conclusion. We found that the HPRTTsou gene variant is partially responsible for the hyperuricemia in an aboriginal population in Taiwan known for a high incidence of gout.
    關聯: WATER AIR AND SOIL POLLUTION 114(3月4日):413-421
    顯示於類別:[環境醫學研究所(已停用)] 期刊論文

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