佛山地区孕产妇G6PD基因缺陷调查及干预模式研究

目的调查佛山地区孕产妇葡萄糖-6-磷酸脱氢酶(G6PD)缺陷状况,探讨干预指导模式的效果。方法选择2013年4~12月到该院产检的孕产妇及其丈夫各1 646例,以反向膜杂交法检查夫妇双方的G6PD基因、以生化仪法检测G6PD活性,分析两性基因突变率、酶活性缺陷率,给予遗传咨询指导并跟踪随访新生儿G6PD基因突变与酶活性低下情况。结果 G6PD基因突变率男性4.7%,女性2.3%;G6PD酶活性缺陷率男性3.5%,女性1.6%;G6PD基因突变发生较高的位点是G1376T(36.2%)、G1388A(21.6%)、A95G(13.7%)和G1024T(11.2%)。结论佛山地区是G6PD缺陷高发地区,G1376T、G1388A、A95G和G1024T是主要的点突变类型。

The Study for gene mutation and enzyme activity of gluocose-6-phosphate dehydrogenase deficiency and for the effect of ;intervention action in Foshan city

Objective To investigate the incidence of gene mutation and enzyme activity of gluocose‐6‐phos‐phate dehydrogenase(G6PD) deficiency in Foshan city ,and to study the effect of intervention Action .Methods Re‐cruit pregnant woman(1 646 cases) and her husband(1 646 cases) who seek antenatal care in our hospital were se‐lected as subject from April to December in 2013 ,the result of gene mutation by PCR‐reverse dot blot(PCR‐RDB) and enzyme activity was detected by biochemical analyzer ,the rate of gene mutation enzyme deficiency was established which afford information for next step of genetics intervene counsel ,as newborn was fellowed for G6PD status .Re‐sults A total of 1 646 spouse was brought into our study ,the gene mutation rate was 4 .7% in husband and 2 .3% in pregnant corresponding 3 .5% and 1 .6% of enzyme deficiency rate ,the rate of G1376T ,G1388A ,A95G ,G1024T site was respectively observed 36 .2% ,21 .6% ,13 .7% and 11 .2% mutation .Conclusion There were popular G6PD defi‐ciency rate in Foshan ,the major mutation site occurred in G1376T ,G1388A ,A95G and G1024T site .