中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2013年
4期
415-419
,共5页
吴琼%周裕林%孔辉%曾寰%吴慧南%沈艳艳%杨超毅%葛运生%蔡美娇
吳瓊%週裕林%孔輝%曾寰%吳慧南%瀋豔豔%楊超毅%葛運生%蔡美嬌
오경%주유림%공휘%증환%오혜남%침염염%양초의%갈운생%채미교
标记染色体%荧光原位杂交%细菌人工染色体
標記染色體%熒光原位雜交%細菌人工染色體
표기염색체%형광원위잡교%세균인공염색체
Marker chromosome%Fluorescence in situ hybridization%Bacterial artificial chromosome
目的 探讨荧光原位杂交(fluorescence in situ hybridization,FISH)及细菌人工染色体荧光原位杂交(bacterial artificial chromosome FISH,BAC-FISH)在鉴定标记染色体来源及结构方面的应用价值.方法 对16例经核型分析提示带有标记染色体的患者,进一步应用FISH等技术确定其来源和结构.结果 经分析16例患者所携带的标记染色体来源分别为:der(Y)2例、psu dic(Y)1例、psu dic(15)1例、dic(15)1例、del(Y)1例、r(X)5例、i(14 or 22)2例、i(15)1例以及i(18)1例.结论 FISH技术有助于提高对于标记染色体的识别能力.综合应用FISH和BAC-FISH等检测技术可为携带标记染色体患者的诊断和治疗提供准确的遗传学依据.
目的 探討熒光原位雜交(fluorescence in situ hybridization,FISH)及細菌人工染色體熒光原位雜交(bacterial artificial chromosome FISH,BAC-FISH)在鑒定標記染色體來源及結構方麵的應用價值.方法 對16例經覈型分析提示帶有標記染色體的患者,進一步應用FISH等技術確定其來源和結構.結果 經分析16例患者所攜帶的標記染色體來源分彆為:der(Y)2例、psu dic(Y)1例、psu dic(15)1例、dic(15)1例、del(Y)1例、r(X)5例、i(14 or 22)2例、i(15)1例以及i(18)1例.結論 FISH技術有助于提高對于標記染色體的識彆能力.綜閤應用FISH和BAC-FISH等檢測技術可為攜帶標記染色體患者的診斷和治療提供準確的遺傳學依據.
목적 탐토형광원위잡교(fluorescence in situ hybridization,FISH)급세균인공염색체형광원위잡교(bacterial artificial chromosome FISH,BAC-FISH)재감정표기염색체래원급결구방면적응용개치.방법 대16례경핵형분석제시대유표기염색체적환자,진일보응용FISH등기술학정기래원화결구.결과 경분석16례환자소휴대적표기염색체래원분별위:der(Y)2례、psu dic(Y)1례、psu dic(15)1례、dic(15)1례、del(Y)1례、r(X)5례、i(14 or 22)2례、i(15)1례이급i(18)1례.결론 FISH기술유조우제고대우표기염색체적식별능력.종합응용FISH화BAC-FISH등검측기술가위휴대표기염색체환자적진단화치료제공준학적유전학의거.
Objective To assess the value of fluorescence in situ hybridization (FISH) and bacterial artificial chromosome FISH (BAC-FISH) for the diagnosis for patients with marker chromosomes.Methods Sixteen patients with marker chromosomes were analyzed with technologies including GTG-banding,Q-banding,multiplex FISH and BAC-FISH.Results The marker chromosomes in the 16 patients were verified as der(Y) (2 cases),psu dic(Y) (1 case),psu dic(15) (1 case),dic(15) (1 case),del(Y) (1 case),r(X) (5 cases),i(14 or 22) (2 cases),i(18) (1 case).Conclusion FISH and BAC-FISH can both verify the origin of marker chromosomes and provide accurate information for the diagnosis and treatment of patients.
