不孕不育妇女地中海贫血检测分析

发布时间：2018-04-22 15:04

本文选题：不孕 + 地中海贫血　；参考：《中国公共卫生》2015年06期

【摘要】：目的探讨海南省不孕不育妇女地中海贫血的发生率并分析其突变类型。方法利用gap PCR及杂交检测试剂盒对334例不孕不育妇女患者进行地贫突变类型的检测。结果 334例不孕不育女性中地中海贫血的总检出率为15.9%,其中β地贫突变共检出3种类型,共5例,检出率为1.5%,包括β17M/βA及β41-42M/βA各1例,βEM/βA共3例;α地贫检出7种突变类型,共47例,检出率为14.1%,包括-α3.7/-α3.7共5例,-α3.7/αα19例,-α4.2/-α4.2共1例,-α4.2/αα14例,-α3.7/αα-α4.2/αα双突变4例,-SEA/-SEA共1例,-SEA/αα共3例;检出1例患者属于α复合β型,检出率为0.3%。结论不孕不育妇女患者地贫基因携带率较高,需严格执行并加强对孕前地贫筛查工作,以利于优生优育,提高人口素质。
[Abstract]:Objective to investigate the incidence of thalassemia in infertile women in Hainan province and analyze its mutation type. Methods gap PCR and hybridization kit were used to detect the mutant type of thalassemia in 334 infertile women. Results the total detectable rate of thalassemia was 15.9in 334 infertile women, of which 5 were 尾 -thalassemia mutations, including 尾 17M/ 尾 A and 尾 41-42M/ 尾 A, 尾 EM/ 尾 A, 尾 EM/ 尾 A, and 伪 thalassemia, among them, 7 mutation types were detected in 伪 thalassemia (47 cases), 尾 17M/ 尾 A and 尾 41-42M/ 尾 A in 1 case, 尾 41-42M/ 尾 A in 3 cases and 伪 thalassemia in 47 cases, 尾 -thalassemia was detected in 5 cases. The positive rate was 14.1, including-伪 3.7- 伪 3.7, including 5 cases of 伪 -3.7 / 伪 -19 cases of 伪 -4.2p- 伪 4.2, 1 case of 伪 -alpha 4.2 / 伪 -14 cases of 伪-伪 -3.7- 伪 -4.2 / 伪 -alpha double mutation 4 cases of double mutation of 伪 -a-3.7- 伪 -alpha 4.2a, 1 case of 伪 -SEA--SEA / 伪伪, and 1 case of 伪 -complex 尾 type, the detection rate was 0.3b. Conclusion the gene carrying rate of thalassemia in infertile infertile women is high. It is necessary to strictly carry out and strengthen the screening of pre-pregnancy thalassemia in order to improve the quality of population.
【作者单位】：海南医学院理学院;海南省农垦总医院生殖科;海南医学院;
【基金】：海南省卫生厅科研项目(琼卫2013自筹-20)
【分类号】：R711.6

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