Zargari Maryam, Sadeghi Mohammad Reza, Shahhosseiny Mohammad Hassan, Kamali Koroush, Saliminejad Kyomars, Esmaeilzadeh Ali, Khorshid Hamid Reza Khorram
Biology Department, Science and Research Branch, Islamic Azad University (IAU), Tehran, Iran.
Avicenna J Med Biotechnol. 2011 Oct;3(4):201-6.
In previous years, identification of fetal cells in maternal blood circulation has caused a new revolution in non-invasive method of prenatal diagnosis. Low number of fetal cells in maternal blood and long-term survival after pregnancy limited the use of fetal cells in diagnostic and clinical applications. With the discovery of cell-free fetal DNA (cffDNA) in plasma of pregnant women, access to genetic material of the fetus had become possible to determine early gender of a fetus in pregnancies at the risk of X-linked genetic conditions instead of applying invasive methods. Therefore in this study, the probability of detecting sequences on the Y chromosome in pregnant women has been evaluated to identify the gender of fetuses. Peripheral blood samples were obtained from 80 pregnant women at 6(th) to 10(th) weeks of gestation and then the fetal DNA was extracted from the plasma. Nested PCR was applied to detect the sequences of single copy SRY gene and multi copy DYS14 & DAZ genes on the Y chromosome of the male fetuses. At the end, all the obtained results were compared with the actual gender of the newborns. In 40 out of 42 born baby boys, the relevant gene sequences were identified and 95.2% sensitivity was obtained. Non-invasive early determination of fetal gender using cffDNA could be employed as a pre-test in the shortest possible time and with a high reliability to avoid applying invasive methods in cases where a fetus is at the risk of genetic diseases.
在过去几年中，母血循环中胎儿细胞的鉴定引发了产前诊断非侵入性方法的一场新革命。母血中胎儿细胞数量少且产后长期存活，限制了胎儿细胞在诊断和临床应用中的使用。随着孕妇血浆中游离胎儿DNA（cffDNA）的发现，获取胎儿的遗传物质成为可能，从而可以在有X连锁遗传病风险的妊娠中确定胎儿的早期性别，而无需采用侵入性方法。因此，在本研究中，评估了孕妇中检测Y染色体序列以鉴定胎儿性别的可能性。从80名妊娠6至10周的孕妇中采集外周血样本，然后从血浆中提取胎儿DNA。应用巢式PCR检测男性胎儿Y染色体上的单拷贝SRY基因以及多拷贝DYS14和DAZ基因的序列。最后，将所有获得的结果与新生儿的实际性别进行比较。在42名出生男婴中的40名中，鉴定出了相关基因序列，灵敏度达到95.2%。使用cffDNA进行非侵入性胎儿性别早期测定可在尽可能短的时间内以高可靠性用作预测试，以避免在胎儿有遗传疾病风险的情况下采用侵入性方法。
