We examined the relation of serum uric acid to mortality among 49,412 male employees aged 25 to 60 years old. Baseline data were collected during the health examinations performed between 1975 and 1982. Vital status was followed until 1985. Compared with men showing a uric acid level of 5.0-6.4 mg/dl, those with a level of 8.5 mg/dl and over had a 1.74-fold higher rate of mortality from all causes (p<0.05). Compared with men showing a uric acid level of 5.0-6.4 mg/dl, those with a level of 8.5 mg/dl and over had a 2.6-fold higher rate of mortality from cerebrovascular disease (p<0.01),1.7-fold higher rate of mortality from ischemic heart disease,3.1-fold higher rate of mortality from other heart disease (p<0.001),3.5-fold higher rate from liver disease (p<0.01), and a 7.0-fold higher rate from renal failure (p<0.01), respectively. Strong associations were obsereved between serum uric acid level and mortality from all causes, heart disease, cerebrovascular disease, liver disease, and renal failure. Associations was also observed between serum uric acid level and body mass index, systolic and diastolic blood pressure, liver function, serum total protein, serum total cholesterol, previous history of gout and circulatory diseases (p<0.001). Further investigation into the possible role of uric acid in the development of various disease is needed.

抄録全体を表示

A virtually complete deficiency of hypoxanthine guanine phosphoribosyltransferase leads to Lesch-Nyhan syndrome. The mutations of five Lesch-Nyhan families were identified using mRNA or genomic DNA obtained from peripheral mononuclear cells or established B-lymphoblasts. Prenatal diagnoses were carried out in 7 fetuses in 5 families by PCR-RFLP method and direct sequencing using genomic DNA from chorionic villi or amniotic fluid cells. The appearance of new restriction sites and the loss of restriction sites by mutations were effectively used for the diagnosis. Mutation was also confirmed by the existence of 6-thioguanine resistant cells, when amniotic fluid cells were used for the diagnosis.

抄録全体を表示