α地中海贫血HKαα／--SEA基因型家系分析  

Pedigree analysis of the HKαα/--SEA gene of alpha thalassemia

作　　者：李玉珠[1] 史敦云[1] 高素青[2] 黄德善 张琼丽[1] 黄瑞宏[1] 黄春秀[3] 李明[1] 杜新[4] 

机构地区：[1]深圳市第二人民医院血液病研究所,518035 [2]深圳市血液中心,518035 [3]深圳市第二人民医院检验科,518035 [4]深圳市第二人民医院血液科,518035

出　　处：《国际遗传学杂志》2016年第3期133-137,共5页International Journal of Genetics

摘　　要：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。Objective Studying on the method of nested PCR combined with pedigree analysis of diagnostic value in rare alpha thalassemia .Mtehods The proband and 1 2 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 mu-tations of alpha thalassemia and 1 7 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 .Rseul ts In 1 2 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 parame-ters .All of the 1 2 cases showed that the hemoglobin electrophoresis was normal .In the 1 2 family mem-bers , there were 2 cases of --SEA/ααgene , 2 cases of αα/ααgene , 6 cases of HKαα/ααgene , and 2 cases of HKαα--SEA gene .None of the 17 common beta thalassemia or 3 common non-deletion alpha thalassemia were detected .Conclusion Nested PCR combined with pedigree analysis method was found a rare thalassemia gene type and an important way to reduce the misdiagnosis of HKααthalassemia .

关 键 词：Α地中海贫血 HKαα 产前诊断 系谱 

分 类 号：R556.61[医药卫生—血液循环系统疾病]