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
5期
539-543
,共5页
涂向东%丛学文%曾健%郑德柱%严爱贞%林炎鸿%丘丽萍%张敏%钟福春
塗嚮東%叢學文%曾健%鄭德柱%嚴愛貞%林炎鴻%丘麗萍%張敏%鐘福春
도향동%총학문%증건%정덕주%엄애정%림염홍%구려평%장민%종복춘
男性不育%额外小标记染色体%单核苷酸多态性芯片%荧光原位杂交
男性不育%額外小標記染色體%單覈苷痠多態性芯片%熒光原位雜交
남성불육%액외소표기염색체%단핵감산다태성심편%형광원위잡교
Male infertility%Small supernumerary marker chromosome%Single nucleotide polymorphisms array%Fluorescence in situ hybridization
目的 对4例男性不育患者所携带的额外小标记染色体(small supernumerary marker chromosome,sSMC)进行定位分析,以探讨其对男性不育的影响.方法 综合应用外周血培养染色体核型G显带、N显带、多重连接依赖探针扩增(multiplex ligation dependent probe amplification,MLPA)、荧光原位杂交(fluorescence in situ hybridization,FISH)、单核苷酸多态性芯片(single nucleotide polymorphisms array,SNP-array)等技术对4例男性不育患者的15q11额外小标记染色体进行分析.结果 G显带分析显示4例患者染色体核型均为47,XY,+mar.N显带分析提示sSMC均为双随体,位于mar两侧.MLPA(SALSA着丝粒探针p180/p182试剂盒)分析提示,1例患者的15q1 1.2基因拷贝数重复.SNP-array分析提示,4例患者均为15q11.1-q11.2区重复,片段大小分别为3.06 Mb、0.9118 Mb、1.728 Mb、0.287 Mb.CEP15 DI5Z4着丝粒探针FISH分析mar均有2个杂交信号,为双着丝粒染色体.综合分析4例患者mar 均来自15号染色体,为双随体、双着丝粒,倒位重复形式,分子细胞核型为47,XY,+mar.ish inv dup(15)(q11) (D15Z4++).结论 15q11 sSMC可能是导致男性不育的重要原因之一.
目的 對4例男性不育患者所攜帶的額外小標記染色體(small supernumerary marker chromosome,sSMC)進行定位分析,以探討其對男性不育的影響.方法 綜閤應用外週血培養染色體覈型G顯帶、N顯帶、多重連接依賴探針擴增(multiplex ligation dependent probe amplification,MLPA)、熒光原位雜交(fluorescence in situ hybridization,FISH)、單覈苷痠多態性芯片(single nucleotide polymorphisms array,SNP-array)等技術對4例男性不育患者的15q11額外小標記染色體進行分析.結果 G顯帶分析顯示4例患者染色體覈型均為47,XY,+mar.N顯帶分析提示sSMC均為雙隨體,位于mar兩側.MLPA(SALSA著絲粒探針p180/p182試劑盒)分析提示,1例患者的15q1 1.2基因拷貝數重複.SNP-array分析提示,4例患者均為15q11.1-q11.2區重複,片段大小分彆為3.06 Mb、0.9118 Mb、1.728 Mb、0.287 Mb.CEP15 DI5Z4著絲粒探針FISH分析mar均有2箇雜交信號,為雙著絲粒染色體.綜閤分析4例患者mar 均來自15號染色體,為雙隨體、雙著絲粒,倒位重複形式,分子細胞覈型為47,XY,+mar.ish inv dup(15)(q11) (D15Z4++).結論 15q11 sSMC可能是導緻男性不育的重要原因之一.
목적 대4례남성불육환자소휴대적액외소표기염색체(small supernumerary marker chromosome,sSMC)진행정위분석,이탐토기대남성불육적영향.방법 종합응용외주혈배양염색체핵형G현대、N현대、다중련접의뢰탐침확증(multiplex ligation dependent probe amplification,MLPA)、형광원위잡교(fluorescence in situ hybridization,FISH)、단핵감산다태성심편(single nucleotide polymorphisms array,SNP-array)등기술대4례남성불육환자적15q11액외소표기염색체진행분석.결과 G현대분석현시4례환자염색체핵형균위47,XY,+mar.N현대분석제시sSMC균위쌍수체,위우mar량측.MLPA(SALSA착사립탐침p180/p182시제합)분석제시,1례환자적15q1 1.2기인고패수중복.SNP-array분석제시,4례환자균위15q11.1-q11.2구중복,편단대소분별위3.06 Mb、0.9118 Mb、1.728 Mb、0.287 Mb.CEP15 DI5Z4착사립탐침FISH분석mar균유2개잡교신호,위쌍착사립염색체.종합분석4례환자mar 균래자15호염색체,위쌍수체、쌍착사립,도위중복형식,분자세포핵형위47,XY,+mar.ish inv dup(15)(q11) (D15Z4++).결론 15q11 sSMC가능시도치남성불육적중요원인지일.
Objective To delineate the origins of small supernumerary marker chromosomes (sSMCs)identified in 4 infertile males.Methods The sSMCs were analyzed with combined G-banding,N-banding,multiplex ligation dependent probe amplification (MLPA),fluorescence in situ hybridization (FISH) and single nucleotide polymorphisms array (SNP-array) techniques.Results G-banding analysis has suggested a 46,X,-Y,+mar karyotype in all of the 4 cases.N banding revealed that all of the sSMCs possessed two satellites located on both sides.By MLPA,1 patient showed copy number gains for 15q11.2 region.SNParray analysis suggested that all had duplication for 15q11.1-q11.2 region,spanning 3.06 Mb,0.9118 Mb,1.728 Mb and 0.287 Mb,respectively.By FISH analysis,all of the sSMCs showed two hybridization signals,indicating that they were dicentric chromosomes.Conclusion In all of the four cases,the mar have derived from chromosome 15 and were bisatellited and dicentric,which give rise to a karyotype of 47,XY,+ish,inv dup(15) (q11) (D15Z4 + +).sSMC 15q11 therefore may be a major cause for male infertility.
