摘要
目的探讨基于滤纸干血斑的毛细管血红蛋白电泳技术在新生儿静止型α地中海贫血筛查中的临床应用。方法回顾性分析222例地中海贫血产前诊断结果为静止型α地中海贫血的基因类型及其对应新生儿滤纸干血斑毛细管血红蛋白电泳结果。采用跨越断裂点PCR及PCR-反向点杂交检测α地中海贫血常见的3种缺失突变和3种点突变。新生儿滤纸干血斑采用毛细管电泳技术进行血红蛋白电泳。结果各组静止型α地中海贫血Hb Bart's含量有差别(H=73.78,P<0.001),除α^(WS)α/αα组外,突变型α地中海贫血Hb Bart's含量高于缺失型α地中海贫血(P<0.05);5组静止型α地中海贫血检出率差异具有统计学意义(P<0.001),其中α^(WS)α/αα组未检出,αCSα/αα组检出率最高(96.34%),突变型α地中海贫血检出率高于缺失型α地中海贫血(P<0.05)。结论毛细管电泳技术可通过检测滤纸干血斑Hb Bart's进行新生儿点突变的静止型α地中海贫血筛查。
Objective：To explore the clinical application of capillary hemoglobin electrophoresis by dried blood spots of filter paper for screening of silent alpha thalassemia in neonates.Methods：A retrospective analysis of the results of prenatal diagnosis genotype analysis and Data from capillary electrophoresis for detecting types and amount of each haemoglobin in 222 cases of silent alpha thalassemia.Three common deletion mutations and 3 point mutations of alpha thalassemia were detected by GAPPCR analysis and the PCR reverse dot blot respectively.The Capillary electrophoresis was used for hemoglobin electrophoresis in dried blood spots of newborn filter paper.Results：The levels of Hb Bart′s were different in each group of silent alpha thalassemia（H=73.78,P〈0.001）.Except for the group of α^WSα/αα,the levels of Hb Bart′s of point mutations alpha thalassaemia was higher than that of deletional alpha thalassaemia（P〈0.05）.There was significant difference between the five groups in the detection rate of silent alpha thalassemia（P〈0.001）.Among them,no α～（WS）α/αα group was detected,the detection rate of αCSα/αα group was the highest（96.34%）,and the detection rate of point mutations alpha thalassaemia was higher than that of deletional alpha thalassaemia（P〈0.05）.Conclusion：The Capillary electrophoresis programmers using dried blood spot can be used to screen of point mutations of silent alpha thalassemia in neonates.
出处
《中国优生与遗传杂志》
2018年第1期81-83,67,共4页
Chinese Journal of Birth Health & Heredity
基金
国家自然科学基金项目(81360091)
卫生行业科研专项项目(201202017)
关键词
毛细管电泳
新生儿
静止型α地中海贫血
干血斑
Capillary electrophoresis
Neonate
Silent alpha thalassemia
Dry blood spot
