摘要
目的将突变特异性扩增系统(ARMS)法引入葡萄糖6磷酸脱氢酶(G6PD)C1311T突变型的检测,并利用它调查C1311T在正常人群中的发生频率,探讨此突变伴发的IVS11C93T是否与酶活性降低有关。方法测序检测G6PD缺乏症患者中的C1311T突变,利用已证实为C1311T标本探索C1311T的ARMS检测法最佳条件,用此法来确定中国人中C1311T的发生频率。再利用测序探讨IVS11C93T是否是某些病例酶活性降低的原因。结果在40例G6PD缺乏症患者中检测到4例C1311T突变,摸索了C1311TARMS法检测的最佳条件。在103名正常男性中检测到19名C1311T。对3名具有C1311T的G6PD缺乏症标本进行了G6PDIVS11测序,在93位均为正常碱基C。同时检测到1份正常标本的IVS11的93位为T。结论ARMS法是一种简单、省时、准确的筛查G6PD基因已知点突变的方法,C1311T在中国南方正常人群中的发生频率为184%,IVS11C93T不是C1311T伴IVS11C93T病例酶活性降低的原因,它极可能为G6PD基因的另一多态性位点。
Objective To use amplification refractory mutation system(ARMS) method to detect the G6PD cDNA C1311T mutation,estimate its frequency in a normal south Chinese population , and investigate whether IVS 11 C93T mutation is the cause of certain G6PD deficient cases.Methods DNA sequencing was used to confirm the C1311T and the IVS 11 C93T mutations. ARMS was set up to detect the C1311T and to estimate its frequency.Results Three cases of C1311T mutation were found in 40 G6PD deficient samples.The optimal condition for ARMS was established. Using this method, 19 cases of C1311T were detected in 103 normal men, and the frequency of this polymorphic mutation was estimated to be 18 4% in southern Chinese population. Four cases with G6PD deficiency were demonstrated to be C at the IVS 11 93 position. At the same time, a case of IVS 11 93 C→T was found in a normal man.Conclusions ARMS is a simple,time saving, and reliable method for detecting known G6PD gene point mutation.The frequency of C1311T in a normal south Chinese population is 18 4%.IVS 11 C93T might be another polymorphic site of the G6PD gene, and it is not the cause of enzyme deficiency in certain G6PD deficient cases.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
1999年第4期197-199,共3页
Chinese Journal of Hematology
基金
国家自然科学基金
关键词
葡萄磷酸脱氢酶
G6PD缺乏
CDNA
基因多态性
Glucose phosphate dehydrogenase Glucose phosphate dehydrogenase deficiency Gene Gene polymorphism