中华妇产科杂志
中華婦產科雜誌
중화부산과잡지
CHINESE JOUNAL OF OBSTETRICS AND GYNECOLOGY
2013年
7期
515-518
,共4页
流产,习惯性%寡核苷酸序列分析%多态性,单核苷酸%绒毛膜绒毛%核型分析
流產,習慣性%寡覈苷痠序列分析%多態性,單覈苷痠%絨毛膜絨毛%覈型分析
유산,습관성%과핵감산서렬분석%다태성,단핵감산%융모막융모%핵형분석
Abortion,habitual%Oligonucleotide array sequence analysis%Polymorphism,single nucleotide%Chorionic villi%Karyotyping
目的 探讨基因芯片单核苷酸多态性阵列(SNP-array)技术在复发性流产遗传学诊断中的应用价值.方法 选择2012年1-10月在浙江省湖州市妇幼保健院产前诊断中心就诊的、曾有自然流产≥2次、本次妊娠又发生自然流产的患者26例(RSA组),对流产物分别应用绒毛染色体核型分析技术和SNP-array技术进行分析；同时选取20例早孕期人工流产妇女作为对照组.结果 绒毛染色体核型分析获得结果19例,检测成功率为73％ (19/26),发现染色体异常10例,异常检出率为10/19；SNP-array技术检测获得结果26例,检测成功率为100％,发现全基因组拷贝数异常15例,异常检出率为58％ (15/26).对照组胚胎绒毛染色体核型分析获得结果16例,检测成功率为16/20,均未发现染色体核型异常；SNP-array技术检测获得结果20例,检测成功率为20/20,均未发现全基因组拷贝数异常.结论 SNP-array技术具有分辨率高、准确性好等优点,是自然流产特别是复发性流产遗传学诊断的有力工具.
目的 探討基因芯片單覈苷痠多態性陣列(SNP-array)技術在複髮性流產遺傳學診斷中的應用價值.方法 選擇2012年1-10月在浙江省湖州市婦幼保健院產前診斷中心就診的、曾有自然流產≥2次、本次妊娠又髮生自然流產的患者26例(RSA組),對流產物分彆應用絨毛染色體覈型分析技術和SNP-array技術進行分析；同時選取20例早孕期人工流產婦女作為對照組.結果 絨毛染色體覈型分析穫得結果19例,檢測成功率為73％ (19/26),髮現染色體異常10例,異常檢齣率為10/19；SNP-array技術檢測穫得結果26例,檢測成功率為100％,髮現全基因組拷貝數異常15例,異常檢齣率為58％ (15/26).對照組胚胎絨毛染色體覈型分析穫得結果16例,檢測成功率為16/20,均未髮現染色體覈型異常；SNP-array技術檢測穫得結果20例,檢測成功率為20/20,均未髮現全基因組拷貝數異常.結論 SNP-array技術具有分辨率高、準確性好等優點,是自然流產特彆是複髮性流產遺傳學診斷的有力工具.
목적 탐토기인심편단핵감산다태성진렬(SNP-array)기술재복발성유산유전학진단중적응용개치.방법 선택2012년1-10월재절강성호주시부유보건원산전진단중심취진적、증유자연유산≥2차、본차임신우발생자연유산적환자26례(RSA조),대유산물분별응용융모염색체핵형분석기술화SNP-array기술진행분석；동시선취20례조잉기인공유산부녀작위대조조.결과 융모염색체핵형분석획득결과19례,검측성공솔위73％ (19/26),발현염색체이상10례,이상검출솔위10/19；SNP-array기술검측획득결과26례,검측성공솔위100％,발현전기인조고패수이상15례,이상검출솔위58％ (15/26).대조조배태융모염색체핵형분석획득결과16례,검측성공솔위16/20,균미발현염색체핵형이상；SNP-array기술검측획득결과20례,검측성공솔위20/20,균미발현전기인조고패수이상.결론 SNP-array기술구유분변솔고、준학성호등우점,시자연유산특별시복발성유산유전학진단적유력공구.
Objective To investigate clinical value of single nucleotide polymorphism array (SNParray) gene chip technique in diagnosis of genetics of recurrent spontaneous abortion (RSA).Methods From January to October 2012,the 26 patients with more than twice of spontaneous abortion in Huzhou Maternal and Child Health Care Hospital were enrolled in this study(RSA group).Meanwhile 20 cases with induced abortion were taken as control group.All aborted tissues were analyzed with conventional cytogenetic karyotyping and SNP-array,respectively.Results Chorionic villus chromosomal examination was successfully done in 19 cases (73％,19/26),which 10 cases were found with chromosomal anomaly,the overall detection rate is 10/19.However,SNP-array analysis was successfully performed in all 26 cases.The overall rate of detection was 100％,and abnormalities were found in 15 cases,which reached the detection rate was 58％ (15/26).Chorionic villus chromosomal examination was successfully done in 16 cases (16/20) in control group,and none of the resluts was chomosomal anomaly; SNP-array analysis was successfully performed in all 20 cases (20/20),and none was found abnormalities.Conclusion SNP-array gene chip technique showed highly accurate feature,which could be used in cytogenetic diagnosis of recurrent spontaneous abortion.
