临床意义未知的拷贝数变异分析提示9p23区域可能和智力发育障碍相关

doi:10.3969/j.issn.1673-8640.2014.11.007

检验医学 ›› 2014, Vol. 29 ›› Issue (11): 1107-1111.DOI: 10.3969/j.issn.1673-8640.2014.11.007

临床意义未知的拷贝数变异分析提示9p23区域可能和智力发育障碍相关

刘宏景¹，姚如恩²，余永国²，孙奋勇¹

1.同济大学附属第十人民医院检验科,上海 200072；
2.上海交通大学医学院附属上海儿童医学中心儿科转化医学研究所,上海 200127

收稿日期:2014-04-18 出版日期:2014-11-01 发布日期:2014-11-28
作者简介:刘宏景，女，1971年生，在职研究生，副主任技师，主要从事临床免疫检验工作。
基金资助:
上海市科委重大科技计划项目(No; 11dz1950300)

Analysis of variants with unknown significance indicating 9p23 as a candidate locus for intellectual development impairment

LIU Hongjing¹, YAO Ru'en², YU Yongguo², SUN Fenyong¹

1. Department of Clinical Laboratory, the Tenth People's Hospital Affiliated to Tongji University, Shanghai 200072, China;
2. Pediatric Translational Medicine Research Institute, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China

Received:2014-04-18 Online:2014-11-01 Published:2014-11-28
Contact: 孙奋勇,联系电话:021-66306909。

摘要/Abstract

摘要：

目的　对全基因组拷贝数芯片分析(CMA)中临床意义未知的拷贝数变异(VUS)与患者表型进行分析,试图寻找和表型相关的拷贝数变异区域。方法　对38例全基因组芯片未见明显结构性变化患者的结果和详细表型(智力水平、发育水平、面容是否异常和头围是否正常)进行分组统计,分析临床意义VUS和表型之间的联系,并在45名正常对照中验证拷贝数变异,排除正常多态性可能。结果　发现9号染色体p23区域的缺失在智力落后患者与智力水平正常但合并其它表型患者中出现,差异有明显的统计学意义(P＜0.01),并且在正常对照中未见该区域的缺失,提示9p23区域可能和儿童智力发育相关。结论　临床意义VUS分析可以帮助提示和患者表型相关的信息,确认临床意义VUS将有助于提高基因组芯片的诊断效率,揭示新的可疑致病区域。

关键词: 拷贝数变异, 智力发育障碍, 全基因组芯片

Abstract:

Objective　To find out copy number variants as candidate loci by analyzing variants with unknown significance (VUS) and phenotypes in chromosomal microarray analysis (CMA). Methods　The VUS and phenotypes in chromosomal microarray for 38 patients were analyzed statistically and classified into different groups (intellectual level, development level, facial abnormality and head circumference abnormality) to evaluate the relation between VUS and phenotypes. A total of 45 healthy controls were used in the study to validate polymorphism copy number variants. Results　Deletions on 9p23 region had significantly higher frequency in intellectual development impairment patients than patients with normal intellectual level with statistical significance (P<0.01), and 9p23 region change had not been detected in 45 healthy controls, indicating this locus to be related with children's intellectual development impairment. Conclusions　The analysis of VUS can offer the reference between phenotypes and copy number variants. The confirmation of VUS can help with enhancing the diagnostic ability of chromosomal microarray and find new pathogenic chromosomal locus.

Key words: Copy number variant, Intellectual development impairment, Chromosomal microarray analysis

中图分类号:

R446.1

刘宏景，姚如恩，余永国，孙奋勇. 临床意义未知的拷贝数变异分析提示9p23区域可能和智力发育障碍相关[J]. 检验医学, 2014, 29(11): 1107-1111.

LIU Hongjing, YAO Ru'en, YU Yongguo, SUN Fenyong. Analysis of variants with unknown significance indicating 9p23 as a candidate locus for intellectual development impairment[J]. , 2014, 29(11): 1107-1111.

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临床意义未知的拷贝数变异分析提示9p23区域可能和智力发育障碍相关

Analysis of variants with unknown significance indicating 9p23 as a candidate locus for intellectual development impairment

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