頁籤選單縮合
題 名 | Partial Deficiencies in Erythrocyte Hypoxanthine-Guanine Phosphoribosyl Transferase Among Members of Three Gout Families |
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作 者 | Huang,Cheng-tien; Yuan,James H.; Wu,Chen-long; Chen,Chin-lang; Sun,Suh-jen; Chen,Se-yang; Chuang,Lei-chieh; Chang,Yuan; Ward,Sandra B.; Chow,Song-nan; | 書刊名 | Journal of Genetics and Molecular Biology |
卷 期 | 8:2 1997.06[民86.06] |
頁 次 | 頁23-35 |
分類號 | 362.6 |
關鍵詞 | Familial gout; Hypoxanthine; Xanthine; Hypoxanthine-guanine phosphoribosyl transferase; HPRT; |
語 文 | 英文(English) |
英文摘要 | In order to better understand the familial nature of gout, its possible relationship with erythrocyte hypoxanthine-guanine phosphoribosyl transferase (HPRT) in members of gout families was investigated. The members of the gout family included the gout patients and their relatives with or without gout problems. It consisted of 45 people (mean age: 29 years, range: 6 to 65 years) including 14 male non-gout members, 8 male gout patients, 21 female non-gout members, and 2 female gout patients which were obtained from 3 gout families. In addition, 49 normal healthy subjects, on the basis of medical history, which included 21 males and 28 females (mean age: 3 8 years, range: 10 to 78 years) from a pool of normals who had neither primary nor secondary hyperuricemia, and had no immediate family members within two generations suffering from gouty diseases were selected for the control group. The plasma levels of hypoxatnhine, xanthine, and uric acid from three gout families with family members suffered from partial hypoxanthine-guanine phosphoribosyl transferease deficiency were investigated. Plasma hypoxanthine, xanthine, uric acid, and erythrocyte HPRT levels were determined, and the data obtained were analyzed by oneway ANOVA. The results indicate that plasma hypoxanthine, xanthine, and uric acid levels of non-gout members and gout patients were significantly higher than those of normal healthy control subjects. With statistical analysis, no difference in mean erythrocyte HPRT specific activity among gout patient group, non-gout member group, and the control group was found. However, when erythrocyte HPRT specific activity for individual members of each family was examined, it was observed some individuals with partial deficiency of HPRT specific activity were identified in these three families. In the present study, among 45 members of gout families, 10 members were found to suffer from gout (22.2%), 7 members with diabetes mellitus (15.6%), 6 members with hyperuricemia (13.3%), 5 members with hypertension (11.1%), 2 members with cerebral vascular accident (4.4%), 2 members with rheumatic arthritis (4.4%), and one each with renal disorder and asthma. The incidence of gout among these families was found to be 22.2% overall with 36.4% for male and 8.7% for female. |
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