Attatippaholkun W H, Anutarachatchaval M, Manassakorn J, Attatippaholkun M K
Department of Clinical Chemistry, Faculty of Medical Technology, Siriraj Hospital, Bangkok, Thailand.
Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:315-21.
Detection of a Y-specific sequence in either amniotic cells or the maternal circulation has clinical importance for prenatal sex diagnosis, especially in mothers with severe X-linked disorders. Deoxyribonucleic acid sequences of human ZFY (zinc-finger-Y) gene, a Y-chromosome-specific gene and candidate for the testis-determining factor, were amplified by in vitro nested PCR technique, in amniotic cells or peripheral blood of Thai pregnant subjects carrying male fetuses. This technique permits detection of ZFY gene DNA sequences in as few as a single male cell among 100,000 female cells. The subjects in this study were a group of Thai pregnant women who had been given prenatal fetal sex diagnosis by the cytogenetic method. The results herein demonstrated the usefulness of PCR detection of Y-specific sequences in amniotic cells. The ZFY gene detection method for prenatal sex prediction by nested PCR has been developed experimentally. However, further investigation is necessary to increase reliability of clinical application. With properly designed guidelines, the established nested-PCR technique may be an alternative for the determination of the fetal sex for those pregnancies at risk of X-linked genetic disorders.
在羊水细胞或母体循环中检测Y特异性序列对于产前性别诊断具有临床重要性，尤其是对于患有严重X连锁疾病的母亲。通过体外巢式PCR技术，在怀有男性胎儿的泰国孕妇的羊水细胞或外周血中扩增人ZFY（锌指-Y）基因的脱氧核糖核酸序列，该基因是Y染色体特异性基因，也是睾丸决定因子的候选基因。这项技术能够在100,000个女性细胞中检测出少至单个男性细胞中的ZFY基因DNA序列。本研究的对象是一组通过细胞遗传学方法进行产前胎儿性别诊断的泰国孕妇。本文的结果证明了PCR检测羊水细胞中Y特异性序列的实用性。通过巢式PCR进行产前性别预测的ZFY基因检测方法已在实验中开发出来。然而，需要进一步研究以提高临床应用的可靠性。通过适当设计的指南，已建立的巢式PCR技术可能是为那些有X连锁遗传疾病风险的妊娠确定胎儿性别的一种替代方法。
