检验医学与临床Issue(16)：2323-2324,2327,3.DOI:10.3969/j.issn.1672-9455.2015.16.010
不同性别Fabry患者的α-半乳糖苷酶A活性研究
Study of alpha galactosidase A activity in different genders of patients with Fabry disease
摘要
Abstract
Objective To investigate the activity of α‐galactosidase A(α‐Gal A) in different genders of the pa‐tients with Fabry disease .Methods 8 patients with Fabry disease GLA gene detection diagnosed by and 13 healthy members in a family were selected and detected theα‐Gal A activity by using the dried blood spots method .Results Theα‐GalAactivityinthemalepatientswithFabrydiseasewas[(8.66±2.15)×10-15mol/(d·spot)],whichwas only 4 .6% of [(188 .31 ± 42 .23) × 10-15 mol/(d · spot)] in the healthy controls ,whereas female patients was 79 . 62% of [(149.93±46.56)×10-15mol/(d·spot)]inthehealthycontrols.Theα‐GalAactivityinhemizygousmale patients was significantly lowered(P<0 .05) ,theα‐Gal A activity detection had higher sensitivity in male hemizygote than female heterozygous .Conclusion The gender difference exists in the decreased degree of α‐Gal A activity .The enzymatic activity is significant reduced in male patients with hemizygotie Fabry disease .关键词
Fabry病/GLA基因/α-半乳糖苷酶Key words
Fabry disease/GLA gene/α-galactosidase A引用本文复制引用
李娟,张德莲,木拉力别克,李南方,杨学磊,郑灵玲,黄昱..不同性别Fabry患者的α-半乳糖苷酶A活性研究[J].检验医学与临床,2015,(16):2323-2324,2327,3.基金项目
新疆维吾尔自治区重点实验室资助项目（XJYS0906）。 （）
