应用Amelogenin基因进行胎儿和两性畸形病人性别判定的研究  

Detection of amelogenin gene for the sex identification in fetus and patients with hermaphroditism.

作　　者：陈萱[1] 李佩玲[1] 王雪清[1] 王志英[1] 王剑[2] 李福琴[1] 李晓平[2] 

机构地区：[1]哈尔滨医科大学附属第二医院妇产科,150086 [2]黑龙江省公安厅四处法医遗传室

出　　处：《中国实用妇科与产科杂志》2004年第12期735-736,共2页Chinese Journal of Practical Gynecology and Obstetrics

摘　　要：目的　检测X Y 染色体的特异片断Amelogenin基因为进行孕早、中、晚期胎儿性别和两性畸形病人的性别判定提供了一个准确快速的可靠方法。方法　 1997年 8月至 2 0 0 0年 2月哈尔滨医科大学第二医院应用PCR技术对 5 8例孕妇 (其中孕早期绒毛 30例 ,孕中期羊水 14例 ,孕晚期脐带血 14例 )和 3例两性畸形病人外周血提取DNA进行X Y Amelogenin染色体特异片段检测。结果　男性呈现 977bpX和 788bpY染色体特异片段 ,女性呈现 977bpX特异片段。DNA扩增片段长度差为 189bp。胎儿的产前诊断和临床性别判定结果与染色体核型分析 ,病理报告 ,临床性别表型一致。结论　通过检测Amelogenin基因进行胎儿性别产前诊断是可靠的。Objective Detection of amelogenin gene by PCR technique for the sex identification in fetu s and patients with hermaphroditism. Methods Amelogenin gene was amplified for determination of sex chromosomes in 58 cases of pregnant women and 3 cases of hermaphroditism by PCR technique;in pr egnancy,samples were obtained from chorionic villus in first trimester,aminiotic fluid cell of s econd trimester,umbilical blood in last trimester,per iod blood were sampled in hermaphroditism patients,which were 30 cases,14 cases, 14 cases and 3 cases respectively.Amplification results in X- and Y-specific fragment of different sizes that were resolved simply by agarose gelelectrophoresis.The genotyping of all successful amplification was found to be correct(100% specificity).None of the media blank showed amplification produc ts(no false positives).Results The results showed that 977bp DNA fragment was detected in female fetus,977bp an d 788bp DNA fragments were obtained in male fetus.The results of this paper were in accordance with cytogenetic analysis and clinical examination. Conclusion The prenatal diagnosis of fetus sex is reliable by detection of amelogenin ge ne.

关 键 词：多聚酶链反应 性别 产前诊断 X-Y-Amelogenin基因 胎儿 两性畸形 

分 类 号：R714.52[医药卫生—妇产科学] R711.1[医药卫生—临床医学]