目的研究巢式PCR结合家系分析的方法对罕见α地中海贫血(α地贫)的诊断价值。
方法对先证者及12名家系成员，采用血常规分析、红细胞脆性及血红蛋白电泳进行地贫筛查；采用PCR-反向斑点杂交(PCR-reverse dot blot，RDB)技术诊断非缺失α地贫点突变和17种β地贫基因点突变；采用跨越断裂点聚合酶链反应(Gap-PCR)进行缺失型α地贫基因型分析；采用巢式PCR检测HKαα基因型；绘制α地贫基因遗传图谱。
结果12例家系成员中，4例MCV、MCH、红细胞脆性低于正常参考值，8例血液学指标均无异常；12例血红蛋白电泳均正常；12例家系成员中-- SEA/αα和αα/αα基因型各2例，HKαα/αα基因型6例，HKαα/-- SEA基因型2例；均无17种常见β地贫和3种常见非缺失α地贫。
结论巢式PCR结合家系分析方法是发现罕见地贫基因型并减少HKαα地贫的漏诊误诊的重要方法。
ObjectiveStudying on the method of nested PCR combined with pedigree analysis of diagnostic value in rare alpha thalassemia.
MethodsThe proband and 12 family members were screened for thalassemia though blood routine analysis, hemoglobin electrophoresis and erythrocyte fragility tests. PCR- reverse dot blot hybridization (RDB) technique was used in the diagnosis of non-deletion point mutations of alpha thalassemia and 17 beta thalassemia gene mutation. Gap of polymerase chain reaction (Gap-PCR) was used in the analysis of alpha thalassemia gene deletion type. The nested PCR was used to detect HK alpha gene type, and drawing the alpha thalassemia gene genetic map was drawn.
ResultsIn 12 family members, there were 4 cases in which the MCV, MCH, and erythrocyte fragility were lower than the normal reference values, and the remaining 8 cases showed no abnormal hematological parameters. All of the 12 cases showed that the hemoglobin electrophoresis was normal. In the 12 family members, there were 2 cases of -- SEA/αα gene, 2 cases of αα/αα gene, 6 cases of HKαα/αα gene, and 2 cases of HKαα-- SEA gene. None of the 17 common beta thalassemia or 3 common non-deletion alpha thalassemia were detected.
ConclusionNested PCR combined with pedigree analysis method was found a rare thalassemia gene type and an important way to reduce the misdiagnosis of HKαα thalassemia.
李玉珠,史敦云,高素青,等. α地中海贫血HKαα/-- SEA基因型家系分析 [J]. 国际遗传学杂志,2016,39(3)：133-137.
DOI:10.3760/cma.j.issn.1673-4386.2016.03.003版权归中华医学会所有。
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