染色体微阵列分析技术在单亲二倍体产前诊断中的应用  

Application of chromosome microarray analysis in prenatal diagnosis of uniparental disomy

作　　者：熊梦华 李春艳 高亚娟 杨红 XIONG Menghua;LI Chunyan;GAO Yajuan;YANG Hong(Department of Obstetrics and Gynecology,The First Affiliated Hospital of Air Force Medical University,Xi'an,Shaanxi710032,China)

机构地区：[1]空军军医大学第一附属医院妇产科,陕西西安710032

出　　处：《中国优生与遗传杂志》2023年第9期1890-1893,共4页Chinese Journal of Birth Health & Heredity

基　　金：国家自然科学基金(82172993)。

摘　　要：目的 探讨染色体微阵列分析技术在单亲二倍体产前诊断中的应用。方法 2020年12月至2021年11月共3007例孕妇在空军军医大学第一附属医院接诊并经产前咨询后行胎儿染色体核型分析和染色体微阵列分析。结果 3007例患者中检出大于10Mb的杂合性缺失共8例,杂合性缺失分别发生在2、5、7、11、13、14号染色体上,其中3例涉及印记基因,分别发生在7、11、14号染色体上,并可能与Silver-Russell综合征、Beckwith-Wiedemann综合征、Kagami-Ogata综合征、Temple综合征相关。结论 单亲二倍体具有多变的临床表型,且传统核型分析无法检出,染色体微阵列分析技术作为一种分子诊断技术可有效检测出单亲二倍体,为单亲二倍体的产前诊断及遗传咨询提供依据。Objective To investigate the application of chromosome microarray analysis in prenatal diagnosis of uniparental disomy.Methods 3007 pregnant women were performed fetal karyotype analysis and chromosome microaray analysis after prenatal consultation from December 2020 to November 2021 in the First Affiliated Hospital of Air Force Medical University.Results Eight cases of loss of heterozygosity greater than 10 Mb were detected in 3007 patients.Loss of heterozygosity occurred on chromosomes 2,5,7,11,13 and 14.Three cases involved imprinted genes,which occurred on chromosomes 7,1l,and 14,respectively,and may be associated with Silver-Russell syndrome,Beckwith-Wiedemann syndrome,Kagami-Ogata syndrome and Temple syndrome.Conclusion Uniparental disomy has variable clinical phenotypes and can not be detected by karyotype analysis.As a molecular diagnostic technology,chromosome microarray analysis can effectively detect uniparental disomy,which provides a basis for prenatal diagnosis and genetic counseling of uniparental disomy.

关 键 词：单亲二倍体 染色体微阵列分析 印记基因 

分 类 号：R714.5[医药卫生—妇产科学]