伊朗精神残疾患者染色体易位t(1;4)(p21;p14)的患病率

P. Vosoughi, F. Keshavarzi, P. Ashtari
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摘要

引言:智力残疾或智力迟钝是指总的心理功能明显低于平均水平,并且在成长过程中存在适应行为残疾的情况。根据1992年美国精神残疾协会的定义,如果一个人的智商(智商)低于70,并且在一项或多项适应技能方面有限制,则被视为智力残疾。智力残疾有许多不同的原因,其中之一是遗传和染色体异常。本文的目的是研究伊朗一些智力迟钝患者的易位突破t(1;4)(p21;p14)。材料与方法:采用细胞遗传学方法对100例轻度精神残疾患者进行了描述性研究。在获得患者血样后,通过每个人的G-Banding核型在专用环境中培养淋巴细胞。通过逻辑回归对数据进行统计分析。结果:研究结果表明,没有一名精神残疾患者受到染色体易位(1;4)(p21;p14)的影响。结论:本研究中易位的缺乏与对疑似易位受试者进行的相同研究中获得的频率相当。此外,染色体分析似乎是一种有用的诊断工具,对智力迟钝的儿童。
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The prevalence of chromosomal translocation t (1; 4) (p21; p14) in Iranian patients with mental disability
Introduction: Intellectual disability or intellectual retardation is a condition in which total mental functioning is distinctively below average and there are disabilities in adaptive behaviors during growth. According to the definition of American Mental Disability Community in 1992 a person is considered intellectually disabled if he or she has an IQ (intelligence quotient) of less than 70 and has a limitation in one or multiple adaptive skills. There are many different causes of intellectual disability that one of them is the genetically and chromosomal abnormalities. The aim of this paper was to study translocation breakout t (1; 4) (p21; p14) in a number of mental retardation patients in Iran. Materials and methods: This descriptive study was carried out on 100 persons with light mental disability by using cytogenetic methods. Lymphocytes were cultured in the dedicated environment by G-Banding karyotype of each person after obtaining patient’s blood sample. The data were statistically analyzed by logistic regression. Results: The findings showed that none of the patients with a mental disability was afflicted to the chromosomal translocation, (1; 4) (p21; p14). Conclusion: The lack of translocation in this study was equivalent with the obtained frequency in the same studies which have been carried out on the subjects suspected to have a translocation. Also, it seems that chromosomal analysis may be a usefulness diagnostic tool for children with mental retardation.
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