【摘要】 目的将微阵列比较基因组杂交技术用于多发畸形胎儿的分子遗传学分析,并探讨其在辅助常规染色体核型分析中的价值。方法选择2012年2月-2015年5月在解放军总医院产前诊断中心超声诊断为胎儿全身多发畸形的妊娠妇女31例,孕妇年龄20~37岁,孕周21~27周。在超声引导下获取羊水或脐血,再行常规染色体核型分析和微阵列比较基因组杂交检测。结果 31例多发畸形脐血样本均进行了G显带染色体核型分析和微阵列比较基因组杂交检测。染色体核型分析中4例培养失败,1例无核分裂象,培养成功的26例中染色体核型分析正常者23例,异常3例,核型异常率为11.54%(3/26)。微阵列比较基因组杂交检测中有4例未发现致病性染色体缺失/重复,21例发现了微缺失和微重复,但均为染色体多态性,不具有致病性,6例检查异常,异常率19.35%(6/31)。结论微阵列比较基因组杂交技术具有分辨率高、覆盖广泛的优势,不仅弥补了培养失败和细胞活力不够无法进行常规染色体核型分析的缺陷,还能从亚显微结构发现缺失和重复,对于畸形原因的分析和解释提供了重要依据。更多还原

【Abstract】 Objective To analyze the molecular genetics changes of multiple malformations using array-based comparative genomic hybridization(a CGH),and evaluate the value of this technique in routine chromosomal karyotype analysis.MethodsThirty one cases were studied of fetal multiple malformations collected by ultrasound examination from Feb.2012 to May 2015 in General Hospital of Chinese PLA.The age of gravida ranged from 20 to 37,the gestational time ranged from 21 to 27 weeks.Samples of amniotic fluid and umbilical cord blood were collected,and chromosomal karyotype analysis and a CGH were carried out.Results All of 31 samples were successfully detected by G-band chromosomal karyotype analysis and a CGH.Among karyotype analysis,4 samples failed of cultivation,and 1 showed no kar yokinesis.Among 26 cases of successful cultivation,3 were with abnormal karyotype leading to a abnormality rate of 11.54%(3/26).In the a CGH analysis,the chromosomal polymorphism with no pathogenicity of microdeletion and microduplication were detected in 21 cases; 6 cases showed abnormal and the abnormality rate was 19.35%(6/31).Conclusions Array-based comparative genomic hybridization technique has the advantages of high resolution and wide coverage,may not only make up for the defect of unable to do karyotyping since failed cultivation or lacking cell vigor,but also reveal the microdeletion and microduplication at submicrostructure level,which is favorable for understanding the reason and providing the evidence of fetal malformation.更多还原