意大利S-腺苷同型半胱氨酸水解酶的多态性

Polymorphism of S-adenosylhomocysteine hydrolase in Italy.

作者信息

Corbo R M, Palmarino R, Schiattarella E, Giannini M A, Scacchi R

出版信息

Hum Hered. 1987;37(3):186-9. doi: 10.1159/000153698.

Abstract

S-adenosylhomocysteine hydrolase (SAHH) polymorphism has been investigated in the Italian population. Three common alleles, SAHH1, SAHH2 and SAHH*3, have been observed and the estimated gene frequencies are 0.968, 0.023 and 0.009, respectively. SAHH activity has been assayed in 50 healthy individuals and the mean activity was 0.043 +/- 0.017 mumol uric acid/min/g Hb at 37 degrees C. Five heterozygotes for adenosine deaminase deficiency and three heterozygotes for purine nucleoside phosphorylase deficiency showed SAHH within the range of the normal distribution. The effects of some thiol reagents on red blood cell SAHH electrophoretic pattern have been investigated.

摘要

在意大利人群中对S-腺苷同型半胱氨酸水解酶（SAHH）多态性进行了研究。已观察到三个常见等位基因，即SAHH1、SAHH2和SAHH*3，估计基因频率分别为0.968、0.023和0.009。已对50名健康个体的SAHH活性进行了测定，在37℃时平均活性为0.043±0.017微摩尔尿酸/分钟/克血红蛋白。五名腺苷脱氨酶缺乏症杂合子和三名嘌呤核苷磷酸化酶缺乏症杂合子的SAHH处于正态分布范围内。研究了一些硫醇试剂对红细胞SAHH电泳图谱的影响。