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目的研究新生儿脐血血红蛋白电泳HbA在筛查β地中海贫血(以下简称β地贫)中的意义,了解贵港市新生儿β地贫常见的基因突变类型。方法对2012年12月~2013年2月在我院产科足月分娩的1185例新生儿脐血采用琼脂糖凝胶电泳分析,将检测结果 HbA<10%的判为β地贫表型阳性,对表型阳性进一步采用聚合酶链反应(PCR)结合反向点杂交技术(RDB)检测其基因突变类型。结果 1185例新生儿中β地贫表型阳性74例,74例β地贫表型阳性检测出β地贫58例,阳性率为78.4%,检出6种突变基因,依次为:41/42(-TCTT)、CD17(A→T)、-28(A→G)、IVS-2-654(C→T)、CD71/72(+A)、-29(A→G),以41/42(-TCTT)突变类型为主,占42.5%。结论新生儿脐血血红蛋白电泳HbA是一种简便、有效筛查新生儿β地贫的方法,贵港市新生儿β地贫常见的基因突变类型为41/42(-TCTT)、CD17(A→T)、-28(A→G),它们均是广西最常见的β地贫基因突变类型。
Objective To study the significance of neonatal cord blood hemoglobin electrophoresis (HbA) in screening β-thalassemia (β thalassemia) and to find out the common gene mutation types of β-thalassemia in neonates in Guigang. Methods The 1185 neonates with full-term obstetric delivery in our hospital from December 2012 to February 2013 were analyzed by agarose gel electrophoresis. The test results were positive for β-thalassemia with HbA <10% Phenotype-positive further by polymerase chain reaction (PCR) combined with reverse-point hybridization (RDB) to detect the type of gene mutation. Results The phenotype of β-thalassemia was positive in 1185 newborns. Of the 74 cases, β-thalassemia was detected in 58 cases of β-thalassemia, with a positive rate of 78.4%. Six kinds of mutations were detected, which were 41/42 (-TCTT), CD17 (A → T), -28 (A → G), IVS-2-654 (C → T), CD71 / 72 (+ A), -29 (A → G) 42 (-TCTT) mutation type, accounting for 42.5%. Conclusion Neonatal cord blood hemoglobin electrophoresis (HbA) is a simple and effective method for screening β-thalassemia in newborns. The common genetic mutations of β-thalassemia in newborns of Guigang are 41/42 (-TCTT), CD17 (A → T ), - 28 (A → G), which are the most common types of β thalassemia mutations in Guangxi.