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目的探讨孕前优生健康检查中新婚待育夫妇地中海贫血筛查在出生缺陷干预应用中的意义,为预防和减少地贫病患儿的出生提供依据。方法双方均为潮汕平原地区户籍的孕前优生健康检查对象12 092例,所有样品均采用MCV法进行初筛,以静脉血平均红细胞体积(MCV≤80fL)作为诊断地贫的阳性参考指标。再应用Gap-PCR和反向点杂交技术(RDB-PCR)对部分样品进行α地贫基因和β地贫基因定型。结果在1679例(MCV≤80fL)血标本中检出7种α-地贫等位基因(染色体)942例,检出9种β-地贫等位基因(染色体)482例,计算上10 413例MCV阴性α-地贫基因推算数205例和10 413例MCV阴性-β地贫基因推算数46例,则潮汕平原地区人群α-基因携带率为9.49%(1147/12 092),β-基因携带率为4.37%(528/12 092)。结论新婚夫妇地中海贫血系统筛查及基因诊断能及时发现各类地贫异常患者,对预防出生缺陷有着重要意义。
Objective To explore the significance of thalassemia screening in newborn couple to be pregnant in prenatal euthygiene health checkup in the application of intervention of birth defects to provide evidence for preventing and reducing the birth of children with thalassemia. Methods Both sides were 12 092 healthy pregnant women with pre-pregnancy eugenics registered in the Chaoshan Plain. All the samples were screened by MCV method and the mean venous blood volume (MCV≤80fL) was used as a positive reference index for the diagnosis of thalassemia. Then some samples were subjected to the determination of α thalassemia gene and β thalassemia gene by Gap-PCR and reverse dot blot (RDB-PCR). Results A total of 942 alleles (chromosomes) of 7 α-thalassemia genes were detected in 1679 blood samples (MCV≤80fL), and 482 alleles (chromosomes) of 9 β-thalassemia genes were detected. Among 205 cases of MCV negative a-thalassemia gene and 46 cases of 10 413 cases of MCV negative-thalassemia gene, the population carrying α-gene in Chaoshan Plain was 9.49% (1147/12 092) The gene carrying rate was 4.37% (528/12 092). Conclusion The systematic screening and genetic diagnosis of thalassemia in newly married couples can detect all kinds of patients with abnormalities of thalassemia in time and have important significance in preventing birth defects.