论文部分内容阅读
目的利用cffDNA对胎儿进行广西、广东地区常见的17种β-地中海贫血基因型的检测,与传统创伤性产前诊断相比较,探讨该方法的准确性和可行性。方法针对广西、广东地区常见的β-地中海贫血突变的基因型设计三对不同引物,并用生物素标记。对cffDNA进行二次PCR反应后,使用反向斑点杂交(revert dot-blot hybridization,RDB)检测胎儿的β-珠蛋白基因型,与创伤性产前诊断结果比较,观察准确率。结果37例cffDNA标本检测中,检出重型β-地中海贫血19例,轻型β-地中海贫血11例,正常7例,与创伤性产前诊断结果相比较出现3例误诊,准确率为91.9%(34/37)。结论利用cffDNA进行β-地中海贫血的检测,可能出现母源性DNA背景的污染,当胎儿基因型与母亲基因型相同时,必须提高警惕,进一步分析或者复查。因为该技术取样容易,对孕妇胎儿无风险,不受孕期时间影响,易为与孕妇接受,因此进一步改进该技术后有望可用于β-地中海贫血的诊断。
OBJECTIVE: To use cffDNA to detect 17 common β-thalassemia isolates in Guangxi and Guangdong Province, and to compare the accuracy with the traditional traumatic prenatal diagnosis. Methods Three pairs of primers were designed according to the genotypes of common β-thalassemia mutations in Guangxi and Guangdong Provinces and labeled with biotin. After secondary PCR reaction of cffDNA, the fetal β-globin genotypes were detected by RDB (reverse dot-blot hybridization), and compared with traumatic prenatal diagnosis, the accuracy was observed. Results Of 37 cases of cffDNA, 19 cases of severe β-thalassemia were found, 11 cases of mild β-thalassemia were found, 7 cases were normal. Compared with traumatic prenatal diagnosis, 3 cases were misdiagnosed with the accuracy of 91.9% 34/37). Conclusion The detection of β-thalassemia using cffDNA may lead to the contamination of maternal DNA background. When the fetal genotype is the same as the mother’s genotype, vigilance, further analysis or review must be done. Because the technology is easy to sample, the fetus of pregnant women is risk-free and is not affected by the time of pregnancy and is easily accepted by pregnant women. Therefore, further improvement of the technique is expected to be used for the diagnosis of β-thalassemia.