微阵列基因组杂交技术在22q11.21微缺失家系中的应用研究  

Clinical application of array-based comparative genomic hybridization for the detection of 22q11. 21 microdeletion: a family study

作　　者：高健[1] 霍平[1] 马丽爽[1] 冉战玲[1] 余小平[1] 梅冰[1] 李娟[1] 

机构地区：[1]河北省人民医院,石家庄050051

出　　处：《中国优生与遗传杂志》2013年第12期18-20,共3页Chinese Journal of Birth Health & Heredity

基　　金：河北省科技计划重大项目(11276102D)

摘　　要：目的了解反复孕育严重先天性心脏病儿、胎儿父亲患有原发性甲状旁腺功能低下家系的基因组拷贝数变化,确定其发病的遗传学原因。方法对常规染色体核型分析未见异常的法洛氏四联症胎儿及其整个家系中的7人采用微阵列基因组杂交(array-based comparative genomic hybridization,array-CGH)技术进行基因组拷贝数变化的检测分析(copy number variations,CNVs)。结果经过array-CGH分析,在胎儿及其父亲的22q11.21均发现存在2.52Mb的致病性缺失片段,位于18,919,942-21,440,514区段。家系中其他成员未发现同样的片段异常。结论 22q11.21微缺失是导致其父亲患原发性甲状旁腺功能减退的遗传学原因,也是该家系多次孕育严重先天性心脏病患儿的原因,同时表明22q11.21微缺失表型多样,临床症状差异大。array-CGH是一种高通量、高分辨率及高准确性的遗传学分析技术,能够发现染色体片段上的亚微结构异常,是临床遗传学研究的重要工具。Objective ： To detect the genomic copy number variations （CNVs） in a family, in which more than two fetuses have serious congenital heart disease and the father has primary hypoparathyroidism, and to determine the genetic causes of the diseases. Methods ： CNVs of the fetus with tetralogy of Fallot and the whole family composed of seven people, which has normal chromosomal karyotype, was scanned and analyzed by array - based comparative genomic hybridization （ array - CGH）. Results： A 22 qll. 21 microdeletion with the size of 2. 52 Mb was identified in the fetuses and the father＇s chromosomes, located at 18919942 - 21440514 region. This gene deletion was found to be pathologic after comparison with the chromsome database. The 22 q11. 21microdeletion was not detected in other family members. Conclusion： A 22q11.21microdeletion is the genetic cause of both the primary hypoparathyroidism in the father, and the repeated occurrence of severe congenital heart disease in the fetuses in the family. The results demonstrate the diversity of phenotypes of 22ql 1.21microdeletion and the large difference in clinical symptoms. Array CGH is a genetic analysis technology with high throughput, high resolution and high accuracy, which plays an essential role in clinical genetics research by detecting effectively the abnormal microstructure of chromosome fragment.

关 键 词：微阵列基因组杂交 基因组拷贝数变化 产前诊断 22q11 2微缺失 

分 类 号：R725.4[医药卫生—儿科]