染色体微列阵分析在特发性身材矮小儿童评估中的应用  

Application of chromosome microarray analysis in the evaluation of children with idiopathic short stature

作　　者：石锦 李胜 费世暖 SHI Jin;LI Sheng;FEI Shinuan(Department of Pediatrics,Affiliated Maternity and Children′s Health Hospital of Hubei Polytechnic University,Huangshi,Hubei 435000,China;Department of Medical Laboratory,Affiliated Maternity and Children′s Health Hospital of Hubei Polytechnic University,Huangshi,Hubei 435000,China;Huangshi Key Laboratory of Birth Defects Prevention,Huangshi Maternity and Children′s Health Hospital,Affiliated Maternity and Children′s Health Hospital of Hubei Polytechnic University,Huangshi,Hubei 435000,China)

机构地区：[1]湖北理工学院附属妇幼保健院儿科,湖北黄石435000 [2]湖北理工学院附属妇幼保健院医学检验科,湖北黄石435000 [3]湖北理工学院附属妇幼保健院出生缺陷防治黄石市重点实验室,湖北黄石435000

出　　处：《国际检验医学杂志》2023年第S02期57-62,共6页International Journal of Laboratory Medicine

基　　金：湖北省卫生健康委联合基金项目(WJ2019439);湖北理工学院校级科研项目(21xjz08Y);黄石市妇幼保健院2022-2023年度院级科研项目青年项目(HSMCHH2022003)。

摘　　要：目的旨在确定各种发生改变的导致特发性身材矮小(ISS)的染色体。方法选择19例身高小于2个标准差评分的ISS儿童被纳入研究,通过使用细胞遗传学检测芯片阵列和基因芯片检测系统进行染色体微阵列(CMA)检测。结果共发现61个新发拷贝数变异(CNV),其中33个拷贝数增加,11个拷贝数缺失和17个拷贝数嵌合,在基因组变异数据库(DGV)中未被报道为正常变异。该研究在3例患者中发现了2个与人类身高变异相关的GWAS单核苷酸多态性紧密相关的基因:SHOX和PAK3。此外该研究还发现18例患者中存在STAT5B变异(c.158A>G),16例患者中存在HDAC6变异(c.3266C>G),15例患者中存在TKT变异(c.1223G>A),可能与调节身高有关。结论CMA是鉴别ISS患者致病性CNV的一种非常有前景的工具,它还有助于识别影响身高的新基因。Objective To identify various altered chromosomes that lead to idiopathic short stature(ISS).Methods From January 2019 to December 2021,19 ISS children with height less than 2 standard deviation scores were included in the study,and chromosome microarray(CMA)was detected by using the cytogenetic detection chip(Affymetrix CytoScan 750K)array and the gene chip detection system(CMA Scanner3000).Results A total of 61 new copy number variants(CNV)were found,of which 33 were increased,11 were deleted and 17 were chimeric,which were not reported as normal variants in the genome variation database(DGV).We found two genes closely related to GWAS single nucleotide polymorphisms associated with human height variation:SHOX and PAK3 in three patients.In addition,we also found STAT5b variation(c.158A>G)in 18 patients,HDAC6 variation(c.3266C>G)in 16 patients,and TKT variation(c.1223G>A)in 15 patients,which may be related to height regulation.Conclusion CMA is a very promising tool to identify pathogenic CNV in ISS patients.It also helps to identify new genes that affect height.

关 键 词：染色体微阵列 拷贝数变异 特发性矮小 

分 类 号：R446[医药卫生—诊断学]