基于微阵列芯片的比较基因组杂交技术在原发性闭经患者中的应用  

Application of array-based comparative genomic hybridization in primary amenorrhea women

作　　者：冯琼 符芳 廖灿 杨昕 张亮[2] 田峰[2] 蔡斌[2] 刘帅[2] 

机构地区：[1]广州市妇女儿童医疗中心,510180 [2]广州市生物芯片北京国家工程研究中心

出　　处：《中华检验医学杂志》2010年第11期1079-1082,共4页Chinese Journal of Laboratory Medicine

基　　金：十一五国家科技支撑计划支撑项目资助课题（2006BAI05A05）;广州市医药卫生科技重点项目资助课题（2006-ZDi-19）;广州市医药卫生科技项目资助课题（2008-YB-090）

摘　　要：目的 采用array-CGH技术对原发性闭经患者进行检测,探讨原发性闭经的分子生物学机制.方法 选取原发性闭经患者10例,另外选择10名具有规则月经周期的同龄女性自愿者作为健康对照者.分别采用常规细胞核型分析技术及array-CGH技术对10例原发性闭经患者和健康对照者进行分析.细胞核型分析技术采用常规G显带染色体核型分析技术,array-CGH技术采用美国Affymetrix公司Cytogenetic 2.7M微阵列芯片技术.结果 10例原发性闭经病例经常规G显带染色体核型分析未发现异常,所有病例和健康对照标本均为正常女性染色体核型：46,XX.Array-CGH 分析结果显示,有5例原发性闭经患者的X染色体短臂末端发生了约110000 bp的细小缺失,定位到染色体上的位置为：46,X,del（X）（p22.33）.所有健康对照者经array-CGH分析均未见异常的DNA拷贝数改变.结论 Array-CGH技术在DNA水平上提高了染色体病的诊断水平,对于常规方法不能明确诊断的原发性闭经患者,有必要应用array-CGH技术进行更高分辨率的遗传学分析.Objective To explore the molecular mechanisms of primary amenorrhea by using arrayCGH technology. Methods Ten patients with primary amenorrhea and 10 female volunteers with regular menstrual cycles as healthy controls were selected. All patients and control samples were analyzed by conventional chromosome analysis （G-banding technology） and array-CGH technology, respectively. ArrayCGH was performed using Affymetrix Cytogenetic 2. 7M arrays following the manufacturer＇s standard protocol. Results Both the patient group and control group analyzed by conventional G-banding karyotype technology showed a negative result with a normal female karyotype： 46, XX. The result of array-CGH analysis demonstrated a microdeletion of approximately 110 000 bp located at the end of the short arm of X chromosome [46, X, del （X） （p22. 33 ）] were identified in 5 patients, which was not detected in the control group. All healthy control samples by array-CGH analysis showed no pathological DNA copy number variation. Conclusions Array-CGH technology can improve the diagnosis rate of chromosomal disease at the DNA level. It is necessary to provide array-CGH for higher resolution genetic analysis of idiopathic primary amenorrhea patient who can not be identified by conventional technology.

关 键 词：闭经 微阵列分析 核酸杂交 

分 类 号：R686[医药卫生—骨科学]