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为了阐明珠海市这座新兴的“移民城市”人群中β地贫的携带率及其基因背景并进行预测性产前诊断,作者对婚前检查对象进行该病血液学筛查后,再采用PCR/异源双链分析法和反向点杂交法(RDB)确定阳性病例的基因型,结果 9 854人例行婚检对象中检出 β地贫阳性病例227人,β地贫的携带率为2.30％。227例阳性病例中的223例被确定了基因型,共检出10种β地贫突变并总结出它们的构成比。在上述人群中筛出双方均为β地贫携带者的对象7对(占0.14％),通过婚前指导和遗传咨询,婚后定期随访,对其中6个家庭的高风险胎儿进行了产前诊断。确定重症地贫胎儿2例并分别于确诊后1周和2周内终止妊娠,杂合子3例和正常胎儿1例。这是目前国内首次报告的在婚前检查中进行大人群地贫系统筛查基础上完成的预测性产前诊断。
In order to elucidate the carrier rate and genetic background of thalassemia and to make predictive prenatal diagnosis in this emerging “immigrant city” population in Zhuhai, the authors conducted a hematology screening of prenuptial subjects and then PCR / Heterozygous double-stranded analysis and reverse dot blot (RDB) were used to determine the genotypes of the positive cases. Results A total of 227 positive cases of β-thalassemia were found in 9 854 regular matrimonial patients, the carriage rate of β-thalassemia was 2.30% . Totally 223 out of 227 positive cases were genotyped, and 10 kinds of β-thalassemia mutations were detected and their constituent ratios were summarized. Seven of the subjects (0.14%) who were carriers of β-thalassemia were screened among the above populations. Prenatal diagnosis was performed on 6 high-risk fetuses in their 6 families through prenatal counseling and genetic counseling and regular follow-up after marriage . Two cases of severe thalassemia were identified and their pregnancies were terminated within one week and two weeks after diagnosis. Three cases of heterozygotes and one case of normal fetus were confirmed. This is the first report of the prenatal diagnosis of prenatal diagnosis based on the systematic screening of the poor population in the premarital examination in China.