Fedchenko V I, Gur'ev S O, Semenova N V
Biomed Khim. 2005 Sep-Oct;51(5):527-35.
Prenatal diagnostics of genetic diseases becomes more and more popular. Classic obstetric approach for diagnostics of numerous genetic diseases employs biopsy or amniotic liquid analyses. Good evidence now exists that polymerase chain reaction (PCR) is one of the most powerful tools of prenatal diagnostics. In contrast to ultrasound investigation PCR is absolutely safe for an embryo and is much more sensitive at early stage of gestation. PCR analysis can recognize male fetal DNA in mother blood and detect some gender-related genetic diseases. Using detection of Y-chromosome in peripheral blood we have analyzed a diagnostic value of some markers sites of Y-chromosome during gestation, type of blood sample (whole blood, plasma or serum) and varioations of the PCR-method (single-step PCR or nested PCR). Comparative analysis of DNA sequences using NCBI Blast we have found Y-chromosome sites (loci DYS14 and ZFY) suitable for PCR identification of male DNA. Blood plasma is the most optimal blood sample for PCR prenatal gender determination. Prenatal gender determination by PCR can be diagnosed at 4-6 weeks gestation.
遗传性疾病的产前诊断越来越普遍。诊断多种遗传性疾病的经典产科方法是采用活检或羊水分析。现在有充分的证据表明,聚合酶链反应(PCR)是产前诊断最强大的工具之一。与超声检查不同,PCR对胚胎绝对安全,并且在妊娠早期更为敏感。PCR分析可以识别母血中的男性胎儿DNA,并检测一些与性别相关的遗传性疾病。通过检测外周血中的Y染色体,我们分析了Y染色体的一些标记位点在妊娠期间的诊断价值、血样类型(全血、血浆或血清)以及PCR方法的变化(单步PCR或巢式PCR)。使用NCBI Blast对DNA序列进行比较分析,我们发现Y染色体位点(基因座DYS14和ZFY)适用于男性DNA的PCR鉴定。血浆是用于PCR产前性别鉴定的最佳血样。通过PCR进行产前性别鉴定可在妊娠4至6周时诊断。