母血浆胎儿游离DNA检测SRY基因  

Detection of Fetal SRY Gene Using Free Fetal DNA in Maternal Plasma

作　　者：杜丽[1] 蒋玮莹[1] 席红利[1] 

机构地区：[1]中山大学中山医学院医学遗传学教研室,广东省妇幼保健院广东广州510080

出　　处：《中山大学学报（医学科学版）》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)

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.

关 键 词：胎儿游离DNA 母血浆 无创性产前诊断 SRY基因 

分 类 号：R714.5[医药卫生—妇产科学]