摘要
目的建立一种对性连锁遗传病胎儿进行非侵入性产前诊断的快速、实用的方法。方法用套式聚合酶链反应（ＰＣＲ）技术对１８例孕周为１８～４０周，年龄为２２～３０岁的初产妇外周血男性单拷贝的ＤＹＳ１４基因进行特异性扩增。１８例孕妇的ＰＣＲ模板皆采用常规方法提取的母体外周血细胞ＤＮＡ，而其中有２例同时采用母体血浆直接作为模板进行ＰＣＲ。结果１８例中１２例妊娠男性胎儿妇女外周血ＤＹＳ１４基因检出率随着孕周的增长而增加，其中有１０例出现ＤＹＳ１４基因扩增带，检出率为８３３％（１０／１２），８例为２次ＰＣＲ扩增皆为阳性，２例为第二次扩增才出现阳性扩增带。利用套式ＰＣＲ使男性胎儿检出率从６６７％（８／１２）提高到８３３％（１０／１２），提高了１６６个百分点，使胎儿性别鉴定的总准确率达到８８８％（１６／１８），并且２例妊娠男胎的孕妇在提取细胞ＤＮＡ的同时利用母体血浆直接作为ＰＣＲ模板进行扩增，同样出现阳性扩增带。结论套式聚合酶链反应技术应用于产前胎儿性别鉴定，具有快速、简便、特异性强和实用性强等优点。
Objective\ To establish a non-invasive method for prenatal diagnosis of sex-linked genetic disorder. Methods\ A single-copy of paternal DYS14 gene in peripheral blood was specifically amplified by nested polymerase chain reaction (PCR) in 18 pregnant women (gestational period: 18-40 weeks, age: 22-30 years).The DNA samples of maternal nucleated blood-cell from the 18 pregnant women were processed by regular method for nested PCR, among which maternal plasma samples of two male-bearing women were used directly as template for nested PCR. Results\ The diagnosis accordande rete obviously elevated with increasing of gestational stage in 12 male-bearingwomen.In 10 of them,the amplified bands of DYS14 gene were identified with diagnosis accordance rate 83.3%(10/12),among which,8 samples gave positive rate was increasedby 16.6% from 66.7%(8/12)by nested PCR,and the final accuracy of 88.8%(16/18) was attained in all cases.In addition,the positive bands were also detected in the 2 maternal plasma samples of male-bearing pregnant women.Conclusions\ The nested PCR possessed the advantages of rapidity, simplicity, specificity and practicality in prenatal sex determination.
出处
《中国实用妇科与产科杂志》
CAS
CSCD
北大核心
1999年第3期149-151,共3页
Chinese Journal of Practical Gynecology and Obstetrics
关键词
外周血
性别鉴定
产前诊断
胎儿
PCR
Nested Polymerase Chain Reaction, Maternal Peripheral Blood Sex Determination, Prenatal Diagnosis
