摘要
【目的】建立一种比较稳定可靠的无创性获取胎儿遗传物质的方法。【方法】从孕妇外周血血浆中提取胎儿游离DNA,以Y染色体上的SRY区域为靶序列进行扩增,扩增产物经DNA测序进行确认,由此来确定我们获得的胎儿DNA。【结果】我们利用获取胎儿游离DNA的方法对16例孕妇进行检测,10例获得了成功,除1例未随访到结果之外,其他9例的随访结果和我们实验判断结果一致。【结论】我们初步建立的这种获得胎儿游离DNA的方法具有可靠性,胎儿游离DNA可以用于性连锁遗传病和单基因疾病的产前诊断。
[Objective] To establish a noninvasive method for detecting fetal SRY gene by free fetal DNA in maternal plasma. [Method] We got free fetal DNA from maternal peripheral blood and amplified the SRY sequence to make sure the fetal gender, followed to verify the truth after birth. [Result] Sixteen pregnant women were involved, 10 out of 16 subjects were identified as 7 males and 3 females. Among them, 9 ones were verified the truth with the postnatal test. 1 subject could not be followed up. [Conclusion] The technique established in the study was reliable and the free fetal DNA can be used as the sample of noninvasive prenatal diagnosis for detecting sex-linked disorders and single gene disorders.
出处
《中山大学学报(医学科学版)》
CAS
CSCD
北大核心
2008年第4期498-500,共3页
Journal of Sun Yat-Sen University:Medical Sciences
基金
国家自然科学基金(面上项目,30571025)
广东省科技重点引导项目(2004B33701007)