| 智力低下患者染色体不稳定性和脆性部位的初步探讨 |
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| 引用本文： | 张庆,徐凤. 智力低下患者染色体不稳定性和脆性部位的初步探讨[J]. 南京医科大学学报(自然科学版), 1991, 0(1) |
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| 作者姓名： | 张庆 徐凤 |
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| 作者单位： | 南京医学院生物学教研室(张庆)，南京医学院生物学教研室(徐凤) |
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| 摘 要： | 对25例先天性智力低下患者及22例正常人进行了自发和经FUdR 诱发的染色体断裂和脆性部位的研究。结果显示,病人组的自发和诱发的染色体断裂率比正常人的为高;脆性部位的表达率也比正常人的高(P<0.005),但未观察到特异性的染色体脆性部位;不同个体之间脆性部位的表达率及分布均有很大差异。本文观察到6个非随机断裂点2p14,3p11,3p21,5q33,9q11和11q12等是HGM9中未描述的。
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| 关 键 词： | 智力迟钝 染色体脆弱位点 人类 |
A PRELIMINARY STUDY ON CHROMOSOME INSTABILITY AND FRAGILE SITE IN THE MENTAL RETARDED PATIENTS |
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| Zhang Qing Xu Feng. A PRELIMINARY STUDY ON CHROMOSOME INSTABILITY AND FRAGILE SITE IN THE MENTAL RETARDED PATIENTS[J]. Acta Universitatis Medicinalis Nanjing, 1991, 0(1) |
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| Authors: | Zhang Qing Xu Feng |
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| Affiliation: | Zhang Qing Xu Feng |
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| Abstract: | Spontaneous and FUdR-induced chromosome breakage or fragile site expressionwas studied in 25 patients with congenital mental retardation(MR)and 22 normal persons.Theresults showed that the frequency of both spontaneous and induced chromosome breakage in MRpatients was higher than that of the normals,and so was the frequency of fragile sitesexpression(P<0.005).However we did not observe the specific fragile sites in patients.Butindividual differences in either frequency or location were observed and there were six fragilesites:2p14,3p11,3p21,5q33,9q11 and 11q12,which have not yet been described in HGM9. |
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| Keywords: | mental retardation chromosome fragile sites human |
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