染色体异常核型淋巴细胞建系及其在染色体分析室间质评中的应用  

Establishment of lymphocyte cell lines with abnormal chromosome karyotypes and its application in external quality assesment for chromosome karyotype analysis

作　　者：翁炳焕[1] 蔡剑平[2] 王绪敏[3] 尤建飞[1] 金昱[1] 王晓华[1] 

机构地区：[1]浙江大学医学院附属妇产科医院浙江省产前诊断中心 ,杭州310006 [2]卫生部临床检验中心 [3]中国科学院基因组研究所

出　　处：《中华医学遗传学杂志》2007年第6期689-691,共3页Chinese Journal of Medical Genetics

摘　　要：目的研制染色体异常核型的质量控制细胞,探讨染色体核型分析的室间质评方法。方法用EB病毒（EBvirus,EBV）转染的人类B淋巴细胞建株法制备染色体异常核型的质控细胞,并择时发放到各参评实验室作染色体核型分析项目的室间质评试验,以4级打分法评价结果。结果研制了6类染色体异常核型的质控细胞,其核型分别为46,X,t（Y;5）（q12;q21）、46,XY,15p＋、46,XX,t（13;18）（q12;q21）、46,X,r（Xp）、46,X,t（Y;Y）、46,XX,t（9;20）（p13;p13）;在室间质评中,各参评实验室回报的相对应于6类质控细胞排序的结果的完全正确率分别为82.1%、92.0%、84.6%、80.8%、86.2%、74.1%,完全错误率分别为10.7%、8.0%、11.5%、19.2%、13.8%、18.5%,总的完全正确率、部分正确率、部分错误率和完全错误率分别为83.2%、0.6%、2.5%和13.7%。结论疑难、罕见病例的染色体核型分析存在较高的误诊率,需定期开展室间质量评价,以动态了解并提高其诊断质量。Objective To develop chromosome abnormal karyotype quality control cell and to explore the external quality assessment （EQA） method for chromosome karyotype analysis. Methods The chromosome abnormal karyotype quality control cells were prepared by EB virus （EBV）transfection of human B lymphocyte strain establishment and were distributed to participating labs for EQA test of chromosome karyotype analysis project at appointed time. The evalu- ation results were obtained through 4 grades scoring, Results Six kinds of chromosome abnormal karyotype quality con- trol cells were initially developed, the karyotypes of which were 46,X,t（Y;5）（ q12;q21 ）,46,XY, 15p ＋ ,46,XX,t（ 13; 18）（q12;q21）,46,X,r（Xp）,46,X,t（Y;Y）,46, XX, t（9;20）（p13;p13） respectively. In the external quality assessment, feedbacks from the participating labs on the sequencing results of the six kinds of quality control cells showed that the wholly overlapping rate were 82.1%, 92.0%, 84.6 %, 80.8 %, 86.2%, 74.1% and the wholly deviation rate were 10, 7%, 8.0%, 11.5%, 19.2%, 13.8%, 18.5%. The overall wholly overlapping rate, partial overlapping rate, partial deviation rate and wholly deviation rate turned out to be 83.2% ,0.6% ,2,5% and 13.7% respectively. Conclusion The misdiagnose rate of chromosome karyotype analysis is rather high and regular external quality assessment is necessary to achieve dynamic information and improve diagnosis quality.

关 键 词：室间质量评价 质控物 染色体核型分析 

分 类 号：R686[医药卫生—骨科学]