CAJ | 학술논문

目的探讨荧光原位杂交(fluorescence in situ hybridization,FISH)技术在提高自然流产绒毛染色体核型分析准确性和异常核型检出率中的作用.方法采用18、X、Y染色体着丝粒探针和13、21及16、22染色体单一序列探针,对100例自然流产绒毛标本同时进行FISH检测和常规染色体核型分析,比较并分析2种方法的一致性及差异.结果 (1)染色体核型分析:100例流产绒毛标本培养成功率为89.0％(89/100).检出异常核型51例,异常核型检出率为57.3％(51/89),其中常染色体非整倍体37例、性染色体非整倍体4例、三倍体2例、四倍体1例,还有1例核型为68,XX,结构异常6例.(2) FISH技术检测:100例流产绒毛标本均获得FISH结果,成功率为100.0％.共检出38例染色体异常,异常核型检出率为38.0％(38/100),其中常染色体非整倍体25例、性染色体非整倍体5例、三倍体3例,还有1例13、16、18、21、22号染色体均为三倍体,嵌合体4例.(3)核型分析与FISH结果的异同:在绒毛标本培养失败的11例中,FISH检测出染色体异常2例,占18.2％(2/11)；核型为46,XY者中FISH检测出3例非整倍体嵌合体；核型为46,XX者中FISH检测出染色体异常2例.FISH能检测出的染色体异常占所有染色体异常核型的65.5％(38/58).结论 FISH技术能简便、快速的检测自然流产绒毛染色体非整倍体数目异常,联合常规染色体核型分析能提高染色体核型分析的准确性和异常核型的检出率.
목적 탐토형광원위잡교(fluorescence in situ hybridization,FISH)기술재제고자연유산융모염색체핵형분석준학성화이상핵형검출솔중적작용.방법 채용18、X、Y염색체착사립탐침화13、21급16、22염색체단일서렬탐침,대100례자연유산융모표본동시진행FISH검측화상규염색체핵형분석,비교병분석2충방법적일치성급차이.결과 (1)염색체핵형분석:100례유산융모표본배양성공솔위89.0％(89/100).검출이상핵형51례,이상핵형검출솔위57.3％(51/89),기중상염색체비정배체37례、성염색체비정배체4례、삼배체2례、사배체1례,환유1례핵형위68,XX,결구이상6례.(2) FISH기술검측:100례유산융모표본균획득FISH결과,성공솔위100.0％.공검출38례염색체이상,이상핵형검출솔위38.0％(38/100),기중상염색체비정배체25례、성염색체비정배체5례、삼배체3례,환유1례13、16、18、21、22호염색체균위삼배체,감합체4례.(3)핵형분석여FISH결과적이동:재융모표본배양실패적11례중,FISH검측출염색체이상2례,점18.2％(2/11)；핵형위46,XY자중FISH검측출3례비정배체감합체；핵형위46,XX자중FISH검측출염색체이상2례.FISH능검측출적염색체이상점소유염색체이상핵형적65.5％(38/58).결론 FISH기술능간편、쾌속적검측자연유산융모염색체비정배체수목이상,연합상규염색체핵형분석능제고염색체핵형분석적준학성화이상핵형적검출솔.
Objective To investigate the effect of fluorescence in situ hybridization (FISH) in increasing the accuracy and detection rate of chromosome aneuploid from spontaneous abortion specimens.Methods Chromosome 13,21,16 and 22 single sequence probes and centromere probes of 18,X and Y chromosome probes were used to detect 100 cases of spontaneous abortion villi samples.The results were compared with conventional karyotype analysis.Results (1) Karyotype analysis:Among 89 successfully cultured villi samples,51 abnormal karyotypes (57.3％) were found,including 37 cases of autosomal aneuploidies,four sex chromosome aneuploidies,two triploids,one tetraploid,one 68,XX and six chromosome structural aberrations.(2) FISH:The detection rate of abnormal karyotype was 38.0％ (38/100),among which 25 cases were autosomal aneuploidies,five sex chromosome aneuploidies,three triploids,four XX chimeras and one triploid in chromosome 13,16,18 and 21.(3) Comparison of the two methods:Among the 11 samples which failed by conventional method,FISH found two abnormal samples.In specimens of 46,XY,three cases showed mosaicism by FISH.In specimens of 46,XX,two cases showed chromosomal abnormalities by FISH.FISH detected overall 65.5％ (38/58) of the chromosomal abnormalities.Conclusions FISH combined with conventional chromosome analysis could improve the accuracy and detection rate of abnormal karyotypes in spontaneous abortion specimens.