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目的研究特发性矮小(ISS)中矮小同源盒基因(SHOX基因)缺失和突变及该基因增强调控序列(CNE)9的缺失与表型特征的关系。方法采用微卫星分析、外显子及增强调控序列CNE9测序对2008年7月至2010年07月从重庆医科大学附属儿童医院门诊收集的患者354例ISS患者进行SHOX基因分析,对SHOX基因异常患者的表型指标进行相关统计学分析。结果 354例ISS患者中发现SHOX基因异常37例(10.5%),其中外显子突变3例(8.1%),缺失32例(86.5%),另CNE9缺失2例(5.4%)。SHOX基因异常患者表型改变有体质指数(BMI)、坐高/身高、前臂长/上臂长增加;前臂长/身高、四肢躯干比减小、四肢躯干比小于校正身高等。结论 SHOX基因异常与表型特征指标有某些相关关系。
Objective To study the relationship between deletion and mutation of SHOX gene and deletion of phenotype enhancer regulatory sequence (CNE) 9 in idiopathic short stature (ISS). Methods Using microsatellite analysis, exon and enhanced sequence CNE9 sequencing, SHOX gene analysis was performed in 354 patients with ISS collected from Children’s Hospital of Chongqing Medical University from July 2008 to July 2010. The phenotypic indicators related statistical analysis. Results Among the 354 patients with ISS, 37 cases (10.5%) had SHOX gene abnormality, including 3 cases with exon mutation (8.1%), 32 cases (86.5%) missing and 2 cases with CNE9 deletion (5.4%). Patients with abnormal SHOX gene phenotypes had body mass index (BMI), height / height, increased forearm length / upper arm length; forearm length / height, lower extremity trunk torso ratio, and lower trunk torso ratio less than corrected height. Conclusion The abnormality of SHOX gene has some correlation with phenotypic characteristics.