应用染色体荧光原位杂交技术鉴别异常核型研究

建立常规G显染色体标本的荧光原位杂交(FISH)技术,用于鉴定复杂、特殊的染色体异常。采用该技术确定染色体G显带核型为46,XX,-5,+der(5)的患者实际核型为46,XX,dir dup(5)(pter→p15::p15→p13::p15→qter),对G显带t(12;17)核型进行染色体定位,得出该核型为46,XY,t(12;17)(q21;q25)。结果表明,新建立的G显带染色体荧光原位杂交技术能更有效地检测特殊、复杂的染色体异常,为研究染色体异常提供了一种有效的分子细胞遗传学技术。

Research of Identifying Abnormal Idiogram by Technique of Chromosome Fluorescence in Situhybridization First Report of 8 Cases'' Chromosome Abnormal Idiogram

Establishing FISH of routine chromosome banding G Sample to indentify complex and special chromosome abnormalities. Idiogram in a low wisdom and atrial septal defect patient was 46,xx, - 5,+der(5)? by chromosome banding G of cytogenetics. However,We were not sure whether the end of der(5) short arm occured again or was connected to other break end,In fact,this case idiogram was 46,xx,dir dup(5)(pter→p15::sp15→p13: :p15→qter). Accurate chromosome location by FISH in 2 spontaneous miscarriage cases had been done and their idiogram were 46, xy, t (12) 17) (q21;q25). Results showed that FISH could further examine special and complex chromosomeab-normalities. FISH provided an effective cytogenetic technique for studying chromosome abnormalities. Abnormal chromosome idiogram in 8 cases were first reported and confirmed by relative departments in this paper,which made human chromosome bank in abnormal idiogram prosperous.