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一种导致智力低下染色体新核型的发现与探究
http://tech.QQ.com  2009年04月24日10:51   腾讯科技    我要评论(0)

腾讯科技讯 第60届Intel ISEF英特尔国际科学与工程大奖赛将于2009年5月10日到15日在美国内华达州雷诺市举行,以下是来自中国的参赛项目介绍:

一种导致智力低下染色体新核型的发现与探究

长沙市雅礼中学 高三 荣镭

 目的:探究一位智力低下患者的病因,为其治疗和预防类似患儿的出生提供依据。

 方法:经中南大学伦理委员会批准,应用染色体G显带、比较基因组杂交(CGH)和荧光原位杂交(FISH)等技术分析患者核型,检索其发生率并分析其意义。

 结果:G显带发现患者11号染色体有多余片段,CGH检测发现其来源于21号染色体,FISH证实患者为21号染色体部分重复和11号染色体部分缺失,核型确诊为:46,XX,der(11).ish der(11)t(11;21)(q23;q11)(WCP21+)。经我国异常核型鉴定唯一单位——“医学遗传学国家重点实验室”鉴定,为国际上未曾报道的新核型。

 结论:本研究发现了一个新核型,为智力低下研究提供了新的遗传资源,为相应的疾病基因克隆提供了材料,为患者将来有效的治疗提供了依据,对类似患者的病因探究有借鉴作用。

以下是英文版:

Identification and analysis of a novel karyotype causing mental retardation

[Objective] To analyze the possible cause of a mental retardation patient, and provide the basis for clinical therapy and prevention of the recurrence risk of such patients.

[Methods] The study was approved by the Institutional Review Board (IRB) of Central South University, the karyotype of the patient was analyzed by chromosomal G banding, comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), and the incidence and clinical significance of the patient’s karyotype was studied.

[Results] An additive fragment was found in chromosome 11 by traditional chromosomal G banding, which was showed to be originated from chromosome 21 by the following CGH detection. The patient’s karyotype was further confirmed to be a partial duplication of chromosome 21 and partial deletion of chromosome 11 by FISH. The karyotype was finally determined to be 46,XX,der(11).ish der(11)t(11;21)(q23;q11)(WCP21+). After reviewing the literatures and applying for karyotype identification submitted to the National laboratory of Medical Genetics, the only unit to identify abnormal karyotype designated by the Ministry of Health, the karyotype was found to be novel which was not reported by any international journal. [Conclusion] A novel karyotype was discovered in this study, which provides a new genetic resource for the research of mental retardation and a new material for the cloning of corresponding disease gene, and also provides the basis for the patient’s effective treatment in the future. Moreover, this study has certain reference meaning to the etiology exploration of similar mental retardation patients.

[责任编辑:brookli]

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