摘要
目的通过研究江门地区505例葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenase,G6PD)基因受检者的主要突变类型,及其分布特点,为该病在江门地区的诊断及预防提供实验依据。方法收集在江门市中心医院体检中心进行健康体检的505例血样标本,利用G6PD/6-磷酸葡萄糖酸脱氢酶(6-phosphaogluconate dehydrogenase,6PGD)比值法进行葡萄糖-6-磷酸脱氢酶活性检测,利用PCR+导流杂交法检测葡萄糖-6-磷酸脱氢酶基因主要突变类型,并随机挑选每种突变样本3例以及1例酶活性检测阳性且杂交法未检出突变的样本进行外显子测序,以验证杂交准确性。结果采用G6PD/6PGD比值法检出酶活性异常的标本18例,检出率为3.56%。利用PCR+导流杂交法检出突变标本119例,基因突变检出率为23.56%,其中男性半合子突变46例(9.11%),女性突变73例(14.46%)。共检出10种突变类型,其中单基因突变类型5种,含80例C1311T(67.23%),17例G1376T(14.29%),6例G1388A(5.04%),6例A95G(5.04%),3例C1024T(2.52%);复合突变5种,含3例G6PD文昌型G871A/C1311T(2.52%),1例G1388A/C1311T(0.84%),1例G1376T/C1311T(0.84%),1例G392T/C1311T(0.84%),1例A95G/C1311T(0.84%);其中含C1311T突变的检出率高达17.23%(87/505)。结论江门地区受试人群G6PD常见突变型为C1311T、G1376T、G1388A、A95G,其中男性检出率高于女性,C1311T发生率最高,而G6PD文昌型G871A/C1311T在该区人群突变型中同样有着较高的发生率,主要发生在G6PD缺乏症检测阳性男性患者中。由于C1311T是一个常见的多态,在C1311T高发的江门地区展开G6PD缺乏症的酶活性筛查、基因检测,对正确指导饮食、用药,了解江门人口中G6PD缺乏症的遗传基础,发现各地区民族的祖先联系有重要价值。
Objective To study the main mutation types of glucose-6-phosphate dehydrogenase gene in 505 populationof Jiangmen City and its distribution characteristics, and to provide experimental evidence for the diagnosis and prevention ofthe disease in Jiangmen area. Methods Totally 505 blood samples were collected from the physical examination center ofJiangmen Central Hospital.The glucose-6-phosphate dehydrogenase activity was detected by G6PD/6PGD ratio method. Themain mutation of glucose-6-phosphate dehydrogenase gene was detected by PCR ＋ diversion hybridization, and randomlyselected 3 samples of each mutation, and 1 sample with positive enzyme activity and no mutation detected by hybridization forexon sequencing to verify the accuracy of hybridization. Results During this period,there were 18 cases of positive samplesmeasured by G6PD/6PGD ratio method, and the positive rate was about 3.56%. And 119 samples of mutant were obtained byPCR＋ diversion hybridization,the detection rate of gene mutation was about 23.56%, including 46 cases（9.11%） of femalehemizygous mutations and 73 cases（about 14.46%） of female mutations. A total of 10 mutant types were detected in our study,among them, there are 5 types of single base mutation,including 80 cases of C1311T（about 67.23%）, 17 cases of G1376T（about 14.29%）, 6 cases of G1388A（about 5.04%）, 6 cases of A95G（about 5.04%）, 3 cases of C1024T（about 2.52%）; 5 kindsof complex mutations, containing 3 cases of G871A/C1311T（about 2.52%, G6PD Viangchan type）, 1 case of G1388 A/C1311T（about 0.84%）, 1 case G1376 T/C1311T（about 0.84%）,1 case of G392T/C1311 T（about 0.84%） and 1 case of A95G/C1311T（about 0.84%）. The detection rate of mutant types including C1311T was as high as 17.23%（87/505）. Conclusion The common mutations of G6PD in Jiangmen area were C1311T, G1376T, G1388A and A95G. The detection rate of male wassignificantly higher than that of female, and the incidence of C1311T was the highest, in addition,G871 A/C1311T also had ahigher incidence in all mutations in this population and were mainly found in male patients with G6PD deficiency. This studyshows that although the C1311T population is usually normal,the presence of C1311T in combination with other mutations may increase the risk of hemolysis and embolism.In Jiangmen, where C1311T is prevalent, it is of great significance to do a good jobin screening G6PD deficiency and detecting G6PD gene, so as to correctly guide diet and medication. In addition, this studyalso demonstrated that C1311T is a common polymorphism that will help to understand the genetic basis of G6PD deficiency inthe population of Jiangmen and find the ancestors of ethnic groups in each region.
出处
《中国热带医学》
CAS
2017年第12期1210-1213,共4页
China Tropical Medicine
