基因测序确认一例新β地中海贫血基因突变CD112（T→A）

目的 报道1例中国人少见的β地中海贫血基因突变CD112（T→A）／N。方法 根据血常规平均红细胞体积（MCV）和平均血红蛋白含量（MCH）以及血红蛋白电泳的HbF和HbA2对婚检和产检患者筛查地中海贫血，对可疑β地中海贫血患者采用基因扩增反向点杂交法检测常见17个位点突变。对于未发现突变者采用基因测序。结果 患者携带一种中国人少见的B地贫基因突变CD112（T→A）。结论 β地贫基因CD112（T→A）突变的报道丰富了中国人β地贫突变谱。对于指导婚检、产检、遗传咨询具有重要价值。

Sequencing a rare mutation CD112(T→A)of theβ-globin gene

Objective： Report a rare mutation of the β -globin gene CD112 （T→A）. Methods： MHC and MHC of the patient were quantified and HbA2 and HbF were analyzed. The β - globin gene was amplified by PCR then analyzed by reverse dot blot with known seventeen mutations and gene sequencing. Results： The patient is heterozygous for CD112 （T→A）. Conclusion： This mutation can be added to the more than 29 different β - thalassemia mutations that have been identified among Chinese populations ofar .