摘要
目的 探讨孕妇血浆中提取胎儿游离DNA ,鉴别胎儿性别以诊断胎儿遗传性疾病的方法。方法 选择妊娠 7~ 3 8周 ,B超确诊为单胎 ,经绒毛和羊水细胞染色体检测 ,确诊为妊娠男性胎儿的正常孕妇 16例 ,妊娠女性胎儿的正常孕妇 8例 ;X性连锁遗传病 (假性肥大性肌营养不良、血友病、色盲、无汗性外胚层发育不良症 )家族史行产前诊断者 4例。用酚提取法 ,纯化孕妇血浆中胎儿DNA ,然后用巢式聚合酶链反应 (PCR)技术测定男性胎儿睾丸决定因子 (SRY)。结果 16例妊娠男性胎儿孕妇血浆中 ,胎儿游离DNA第 1次巢式PCR测定 ,检出SRY基因扩增片段 10例 ,第 1次检出率为62 5 % ;经第 2次巢式PCR测定 ,另 6例全部检出SRY基因扩增片段 ,累计检出率为 10 0 %。妊娠女性胎儿的 8例孕妇血浆中 ,均未检出SRY基因扩增片段。 4例X性连锁遗传病家族史者均检出SRY基因扩增片段。结论 从孕妇血浆中提取胎儿游离DNA行胎儿性别诊断 ,是一种快速、简便、准确的产前诊断方法。
Objective To detect matenal serum fetal DNA for prenatal diagnosis of fetal sex Methods Five to ten ml maternal serum was obtained from 24 pregnant women with 16 male fetuses and 8 female fetuses (including 4 carriers with X linked diseases) The fetal sex was detected by analyzing the karyotype from amniotic fluid and villus Serum DNA was extracted, nested polymerase chain reaction was employed the male fetal DNA Results The sensitivity of the first polymerase chain reaction was 62 5% The sensitivity of the first and the second reaction was 100% There was no false positive Fetal sex of 4 X linked disease carriers was diagnosed The determinate rate was 100% Conclusion Using fetal DNA from maternal serum and nested polymerase chain reaction was a quick, simple and accurate method for prenatal diagnosis of the fetal sex
出处
《中华妇产科杂志》
CAS
CSCD
北大核心
2002年第12期715-717,共3页
Chinese Journal of Obstetrics and Gynecology
基金
广州市自然科学基金资助项目 (1998 Z 0 2 4 0 1)