湛江地区地中海贫血基因携带率及产前基因诊断的研究

目的对产前优生优育检查的夫妻进行地中海贫血的筛查及基因突变分析,对高风险的胎儿进行产前诊断,以降低湛江地区地中海贫血重症患儿的出生率。方法采用红细胞平均体积及血红蛋白电泳对752对夫妻进行地中海贫血的筛查,并用跨越断裂点聚合酶链反应(Gap-PCR)技术及随机双盲试验(RDB)法分别对α及β地中海贫血进行基因诊断。结果检出地中海贫血183例,发生率12.23%。α地中海贫血131例,基因携带率为8.76%;其中:--SEA/73例,α3.7/36例,-α4.2/19例。检出β地中海贫血52例,基因携带率为3.47%。检出β基因突变类型依次为CDs41/42(-CTTT)18例,IVS2-654(C→T)15例,-28(A→G)8例,CD26(G→A,βE)6例,CD17(A→T)4例,CDs71/72(+A)1例。对13对夫妇均为地贫携带者的胎儿进行产前诊断,2例为Bart′s水肿胎终止妊娠;1例为β地中海贫血纯合子而终止妊娠。结论通过产前筛查地中海贫血及基因诊断,确诊了重症患儿并及时终止妊娠,有效避免重症患儿的出生,对提高人口素质具有重要意义。

Investigation the carrier rate and fetal diagnosis of thalassemia in zhanjiang city

Objective Investigating the ean-ier rate of α and β-thalassemias in Zhanjiang city and performing diagnosis in high risk fetus,in order to prevent and control the birthrates of thalassemia. Methods The red blood cell indices analysis and hemoglobin electrophoresis were carried out on all of the samples of 752 couples. Gap-PCR aud RDB method were used for α-thalassemia genotyping and β-thalassemia genotyping. Results 183 cases of thalassemia （12.23%） were identified among the total eases. 131 eases were with α-thalassemia （8.76%）, which including 73 cases of -^SEA/, 36 cases of-α^3.7/, 19 eases of-α^4.2/; 52 cases were with β-thalassemia （3.47%）, the types of mutation are CDs41/ 42（-CTTT）, IVS2-654（C→T）, -28（A→G）, CD26（G→A, β^E）, CD17（A→T）4, CDs71/72 （＋A）. 13 cattier couples were detected for thalassemia and the fetuses were subjected prenatal diagnosis： 3 cases of Bart＇s edema, 1 case of β- thalassemia homozygote. Conclusion Neonateswithmajor thalassemia can be clarified and even avoided by screening the incidence and types of geniemutations. Thus the usage of thismethod is effective to avoid the birth of neonates amt is vital to improve the quality of human being.