原因不明的智力迟钝患者的调查

Afshin Yarmohammadi, F. Keshavarzi, M. Farhadian
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引用次数: 0

摘要

简介:脆性X综合征(Fragile X syndrome, FXS)是发育障碍最常见的遗传原因之一,是遗传性严重认知缺陷最常见的形式。本研究旨在探讨FXS及其在中度智障患者中的患病率。材料与方法:采用细胞遗传学和分子遗传学方法对19例临床怀疑有FXS的中度智力迟钝(MR)患者进行FXS筛查。采集血样,在特定培养基中培养。用g带法进行核型分析。为确保细胞遗传学检测结果正确,对4例疑似FXS病例进行PCR检测。结果采用logistic回归分析。结果:4例(4%)患者在q27.3处发现脆性X位点表达。结果表明,FXS与家庭、经济状况的关系不显著,但与MR、家族史的关系显著。结论:本研究中发现的FXS阳性病例的频率与其他预选患者FXS的报道相似。
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A survey of patients with mental retardation of unknown origin
Introduction: Fragile X syndrome (FXS) is one of the most prevalent genetic causes of developmental disability, representing the most frequent form of inherited severe cognitive deficit. The present study was undertaken to investigate FXS and its prevalence in moderate mentally retarded people in patients. Materials and methods: Nineteen people with moderate mental retardation (MR) who were clinically suspicious to have FXS were screened for FXS by using cytogenetic and molecular methods. Blood samples were collected and cultured in specific culture media. G-Banding method was used for karyotyping. To ensure correct results of cytogenetic testing, four suspected case of FXS were tested by PCR. Results were analyzed using logistic regression analysis. Results: Four patients (4%) were found to express fragile X site at q27.3. The results showed that the relationship of FXS with familial, economic status was not significant, but the relationship of FXS with MR and family history was significant. Conclusion: The frequency of FXS positive cases found in this study is similar to other reports of FXS in preselected patients.
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