摘要
目的研究新生儿脐血血红蛋白电泳HbA在筛查p地中海贫血(以下简称B地贫)中的意义,了解贵港市新生儿B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B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B地贫表型阳性74例,74例B地贫表型阳性检测出p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 hemoglobin electrophoresis HbA of neonatal cord blood in β thalassemia screening and to find out the common type of gene mutation of β Thalassemia in neonates in Guigang City. Methods : Adopted agarose gel electrophoresis approach to analysis 1185 cases of cord blood of neonate in term birth from December 2012 to February 2013 in the People' s Hospital of Guigang City. For positive β Thalassemia phenotype, in which HbA was lower than 10%, tested the type of gene mutation through a method combining PCR and RDB. Results : Of the 74 cases of positive β Thalassemia phenotype, which was found among 1185 cases of neonates, there were 58 cases of β Thalassemia, a positive rate of 78.4%. There were six types of gene mutation: 41/42 (-TCTT), CD17 (A→T), -28 (A→G), IVS-2-654 (C→T), CD71/72 (+A) and -29 (A→G). The type of 41/42 (-TCTT) were in the majority, accounting for 42. 5%. Conclusions: The method of hemoglobin electrophoresis HbA of neonatal cord blood in β - thalassemia screening was simple and effective. The common types of gene mutation of neonatal β Thalassemia in Guigang City were 41/42 ( -TCTT), CD17 (A→T) and -28 (A→G), which were also the most widely seen in GangXi.
出处
《中国优生与遗传杂志》
2014年第1期75-76,共2页
Chinese Journal of Birth Health & Heredity