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孕妇外周血中胎儿有核红细胞在性连锁遗传病产前诊断中的初步应用
引用本文:邬晋芳,王琳,马旭,叶国玲,蔡小宁. 孕妇外周血中胎儿有核红细胞在性连锁遗传病产前诊断中的初步应用[J]. 中国优生与遗传杂志, 1999, 0(6)
作者姓名:邬晋芳  王琳  马旭  叶国玲  蔡小宁
作者单位:西安医科大学第二临床医学院遗传研究室!710003(邬晋芳,叶国玲,蔡小宁),国家计生委计划生育科学技术研究所!北京100081(王琳,马旭)
摘    要:目的:探讨利用母血胎儿有核红细胞进行性连锁遗传病产前诊断的可行性;方法:通过密度梯度离心富集母血胎儿有核红细胞,并经流式细胞仪鉴定,对富集后胎儿有核红细胞进行了SRY 基因的套式PCR检测;结果:5 例有性连锁遗传病家族史的孕妇外周血中经扩增后3 例阳性、2 例阴性,所得结果均得到相应羊水、胎盘DNASRY/PCR 检测或出生胎儿生殖器检查结果的证实;结论:母血中胎儿有核红细胞可用于性连锁遗传病的早期产前诊断

关 键 词:胎儿有核红细胞  产前诊断  性连锁遗传病  性别鉴定

Prenatal diagnosis of X-linked genetic disease with fetal cells in maternal blood.
Wu Jinfang,Wang Lin,Ma Xu,et al.. Prenatal diagnosis of X-linked genetic disease with fetal cells in maternal blood.[J]. Chinese Journal of Birth Health & Heredity, 1999, 0(6)
Authors:Wu Jinfang  Wang Lin  Ma Xu  et al.
Abstract:Objective:to discuss the possibility of prenatal diagnosis of X-linked genetic disease with fetal cells in maternal blood.Methods:the fetal nucleated red blood cells were enriched by density gradient centrifugation and demonstrated by flow cytometre analysis. The SRY ene was amplified by nested-PCR from each sample of enriched fetal cells. Results:five pregnant women who have X-linked genetic disease family history were diagnosis by this noninvasive procedure. Three of them are SRY positive and the other two are proved by those of fetal amniocentesis fluid or placental villus. Conclusion:X-linked genetic disease can be early prenatl diagnosis by using fetal nucleated red blood in maternal circulation.
Keywords:Fetal cells   Maternalbood   Prenatal diagnosis   X-linked diseases
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