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

作　　者：李娟[1] 张德莲[2] 木拉力别克 李南方[2] 杨学磊[3] 郑灵玲 黄昱[4] 

机构地区：[1]石河子大学医学院,新疆石河子832000 [2]新疆维吾尔自治区人民医院高血压中心/新疆高血压研究所,乌鲁木齐830001 [3]新疆维吾尔自治区人民医院临床医学研究中心,乌鲁木齐830001 [4]北京大学医学部医学遗传学系,北京100191

出　　处：《检验医学与临床》2015年第16期2323-2324,2327,共3页Laboratory Medicine and Clinic

基　　金：新疆维吾尔自治区重点实验室资助项目(XJYS0906)

摘　　要：目的了解Fabry病中不同性别患者α-半乳糖苷酶A(α-Gal A)活性情况。方法选取一个Fabry病家系的8例患者和13例健康者,应用干血片法测定经过GLA基因检测确诊的Fabry病患者和健康者α-Gal A活性并进行比较。结果男性患者的α-Gal A活性[(8.66±2.15)×10-15 mol/(d·spot)]为健康对照者[(188.31±42.23)×10-15 mol/(d·spot)]的4.6%,女性患者[(149.93±46.56)×10-15 mol/(d·spot)]则为健康对照者的79.62%。男性半合子患者酶活性明显下降(P<0.05)。α-Gal A活性检测对男性半合子的灵敏度高于女性杂合子。结论α-半乳糖苷A活性下降程度存在性别差异,男性半合子Fabry病患者酶活性明显下降。Objective To investigate the activity of a-galactosidase A（a-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 the a-Gal A activity by using the dried blood spots method. Results The a-Gal A activity in the male patients with Fabry disease was[ （8.6 6 ±2.15）×10^-15 mol/（d ·spot）], which was only 4.6% of [（188.31±42. 23） ×10^-15mol/（d· spot）] in the healthy controls,whereas female patients was 79. 62 % of [（ 149.93± 46.56） ×10^-15 mol/（d · spot）] in the healthy controls. The α-Gai A activity in hemizygous male patients was significantly lowered（P〈0.05）, the α-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 

分 类 号：R394[医药卫生—医学遗传学]