中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2005年
3期
254-257
,共4页
刘青杰%马芬%李丹%王晓维%田文雁%陈艳%封江彬%陆雪%陈德清%陈晓宁%沈岩
劉青傑%馬芬%李丹%王曉維%田文雁%陳豔%封江彬%陸雪%陳德清%陳曉寧%瀋巖
류청걸%마분%리단%왕효유%전문안%진염%봉강빈%륙설%진덕청%진효저%침암
儿童孤独症%G显带%荧光原位杂交%人工细菌染色体
兒童孤獨癥%G顯帶%熒光原位雜交%人工細菌染色體
인동고독증%G현대%형광원위잡교%인공세균염색체
autism%G-banding%fluorescence in situ hybridization%bacterial artificial chromosome
目的检测中国儿童孤独症患者的特征性染色体改变.方法应用高分辨G带和人工细菌染色体(bacterial artificial chromosome, BAC)荧光原位杂交(flourescence in situ hybridization, FISH)分析68例中国儿童孤独症患者的染色体改变.结果用G带分析观察到有染色体改变的4例患者,分别为1例t(4;6)(q23-24;p21)、1例21p+和2例9号染色体臂间倒位.BAC FISH进一步证实易位病例,而且更精确[t(4;6)(q25-26;p21.1)];涉及7号、15号、2号染色体的BAC FISH均未观察到文献中报道的染色体改变;而9号染色体的臂间倒位和21p+因无BAC克隆而无法证实.结论用G带和BAC FISH发现少数中国孤独症患者有染色体改变,但远没有文献中报道的10%～48%那么高.BAC FISH有助于精确地确定染色体易位断裂点.
目的檢測中國兒童孤獨癥患者的特徵性染色體改變.方法應用高分辨G帶和人工細菌染色體(bacterial artificial chromosome, BAC)熒光原位雜交(flourescence in situ hybridization, FISH)分析68例中國兒童孤獨癥患者的染色體改變.結果用G帶分析觀察到有染色體改變的4例患者,分彆為1例t(4;6)(q23-24;p21)、1例21p+和2例9號染色體臂間倒位.BAC FISH進一步證實易位病例,而且更精確[t(4;6)(q25-26;p21.1)];涉及7號、15號、2號染色體的BAC FISH均未觀察到文獻中報道的染色體改變;而9號染色體的臂間倒位和21p+因無BAC剋隆而無法證實.結論用G帶和BAC FISH髮現少數中國孤獨癥患者有染色體改變,但遠沒有文獻中報道的10%～48%那麽高.BAC FISH有助于精確地確定染色體易位斷裂點.
목적검측중국인동고독증환자적특정성염색체개변.방법응용고분변G대화인공세균염색체(bacterial artificial chromosome, BAC)형광원위잡교(flourescence in situ hybridization, FISH)분석68례중국인동고독증환자적염색체개변.결과용G대분석관찰도유염색체개변적4례환자,분별위1례t(4;6)(q23-24;p21)、1례21p+화2례9호염색체비간도위.BAC FISH진일보증실역위병례,이차경정학[t(4;6)(q25-26;p21.1)];섭급7호、15호、2호염색체적BAC FISH균미관찰도문헌중보도적염색체개변;이9호염색체적비간도위화21p+인무BAC극륭이무법증실.결론용G대화BAC FISH발현소수중국고독증환자유염색체개변,단원몰유문헌중보도적10%～48%나요고.BAC FISH유조우정학지학정염색체역위단렬점.
Objective To detect the characteristic chromosomal changes in Chinese children with infantile autism. Methods Chromosome aberrations in 68 cases of infantile autism were analyzed by high-resolution G-banding and fluorescence in situ hybridization (FISH) with bacterial artificial chromosome (BAC) clones. Results Chromosomal changes were detected in 4 cases by high-resolution G-banding: one case with t(4;6)(q23-24;p21), one case with longer p arm of chromosome 21 (21p+), and two cases with pericentric inversion of chromosome 9 (inv(9)) which was confirmed by C-banding. BAC FISH analysis was performed to confirm these observations and changes in chromosomes 2, 7 and 15, which are often found in autistic children. There could exist the translocation of t(4;6) (q25-26;p21.1). Chromosome changes often reported previously in chromosomes 2, 7 and 15 were not detected in this study. Inv(9) and 21p+ were not confirmed with present BAC clones. Conclusion Chromosomal changes were detected in four cases of infantile autism, with a detectability of 5.9%, far lower than that (10% to 48%) reported in literature. The breakpoint of translocation could be detected more accurately using BAC FISH method.
