论文部分内容阅读
目的主要通过调查湛江地区婚检产检夫妻中的β地中海贫血(简称地贫)的携带率、基因突变类型及其频率分布,找出流行病学规律,降低湛江地区地中海贫血重症患儿的出生率,确保优生优育。方法主要采用血常规、红细胞脆性及血红蛋白电泳对婚前检查、产前检查的夫妻进行地中海贫血筛查,再用跨越断裂点聚合酶链反应(Gap-PCR)技术及膜杂交法法对β-地贫血进行基因诊断。结果在836对优生优育夫妻中,地贫阳性样品有59例,检出率为3.53%。通过PCR和膜杂交分析,发现五种常见类型:CDs41/42(-CTT)、IVS2-654(C-T)、-28(A-G)、CDs43(G-T)、CDs71/72(+A)、CDs27/28(+C)、CD26(G-A,βE)、CD17(A-T)。结论通过婚检、产前筛查地中海贫血及基因诊断,考查了湛江地区β-地中海贫血携带情况,为制定该地区β地贫预防计划提供参考。
Objective To investigate the prevalence of β-thalassemia (thalassemia) and the frequency distribution of β-thalassemia in maternity and gynecological examinations in Zhanjiang, to find out the epidemiological rules and to reduce the birth rate of children with severe thalassemia in Zhanjiang and to ensure Prenatal and postnatal care. Methods The blood test, erythrocyte fragility and hemoglobin electrophoresis were used to screen thalassemia patients for prenuptial and prenatal examinations, and then detected by Gap-PCR and membrane hybridization method. Anemia gene diagnosis. Results Among 836 pairs of prenatal and postnatal care couples, there were 59 positive samples of thalassemia, with a detection rate of 3.53%. Five common types were found by PCR and membrane hybridization analysis: CDs41 / 42 (-CTT), IVS2-654 (CT), -28 (AG), CDs43 (GT), CDs71 / 72 (+ A), CDs27 / 28 (+ C), CD26 (GA, βE), CD17 (AT). Conclusion Marital examination, prenatal screening of thalassemia and genetic diagnosis, to explore the situation of β-thalassemia in Zhanjiang, and to provide reference for the development of β-thalassemia prevention program in this area.