联合运用多种技术鉴别四例胎儿新发标记染色体  

Combined various techniques to identify de novo marker chromosome in 4 fetus

作　　者：席惠[1] 王华[1] 贾政军[1] 黄定梅 周玉春[1] 邬玲仟[2] 

机构地区：[1]湖南省妇幼保健院,湖南长沙410008 [2]中南大学医学遗传学国家重点实验室,湖南长沙410007

出　　处：《中国优生与遗传杂志》2013年第10期25-27,39,共4页Chinese Journal of Birth Health & Heredity

基　　金：2012年湖南省科技厅课题:染色体微阵列分析在产前诊断中的应用及诊断流程的研究;课题申请号:2012-158;课题合同号:132012-109

摘　　要：目的探讨传统细胞遗传学技术联合SNP-array(single nucleotide polymorphisms array,SNP-array)在识别胎儿微小额外标记染色体(supernumerary marker chromosome,sSMC)致病性中的临床应用价值。方法通过常规G显带技术分析胎儿染色体核型,针对发现的sSMC,应用C显带技术分析sSMC,如果sSMC非异染色质,进一步进行SNP-array辨别其来源并分析相应的表型。结果通过对8575例产前诊断标本G显带核型分析发现4例新发标记染色体,其中C显带示2例为异染色质结构,2例为非异染色质结构。这2例非异染色质结构病例进一步行SNP-array检测,结果示一例未见致病性改变,另一例为4号染色体部分重复。结论 SNP-array能够在基因组水平上识别胎儿sSMC的成分,结合传统的细胞遗传学技术应用于产前诊断中,为确定sSMC的致病性提供了可靠的产前诊断技术平台。Objective： To explore the clinical application of Single Nucleotide Polymorphisms array （SNP- array） and cytogenetic techniques in the prenatal evaluation of fetal with supernumerary small marker chromosome （sSMC）. Method： G - banding were perform on all prenatal diagnosis from amniotic fluid and cord blood sample. C banding techniques was used to analyze the sSMC structure. SNP - array was used to analyze the origin and phenotype of the sSMC. Results ： In 8575 prenatal diagnostic specimens through the G - banding karyotype detection, 4 cases were de novo sSMC. C - banding identify 2 cases as a source of heterochromatin, 2 cases were non - source of heterochromatin which were further tested by SNP - array, results shown that one case had no pathogenic genomic change and the other case＇s sSMC chromosome comes from the 4th chromosome. Conclusion： SNP -array is an important method to detect the origin of sSMC. Combined with the traditional karyotype analysis in prenatal diagnosis, it provides a valuable prenatal diagnosis technique platform for characterizing the structure of the sSMC.

关 键 词：微小额外标记染色体 单核苷酸多态性芯片技术 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]