中国实用儿科杂志

中国实用儿科杂志 ›› 2011, Vol. 26 ›› Issue (05): 377-.

• 论著 • 上一篇    下一篇

特发性矮小患儿矮小同源盒基因异常与表型特征的关系研究

  

  1. 重庆医科大学附属儿童医院内分泌科，重庆　 400014
  • 收稿日期:2010-12-09 修回日期:2011-03-05 出版日期:2011-05-06 发布日期:2011-07-05
  • 基金资助:

    《中国实用儿科杂志》金赛儿科内分泌中青年医师科研基金（200905005）

Study on the deficiency of SHOX gene and its correlation with corresponding phenotypes of ISS.　　

  1. Department of Endocrinology，the Children's Hospital，Chongqing Medical University，Chongqing 400014，China
  • Received:2010-12-09 Revised:2011-03-05 Online:2011-05-06 Published:2011-07-05

摘要：

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。

关键词: 特发性矮小, SHOX基因, 表型

Abstract:

To study the deficiency and mutation of short stature homeobox containing （SHOX） gene and the relationship betweengenotypes and phenotypes. Methods　The variations in gene SHOX and the pseudoautosomal region （PARI） of the sex chromosomes in 354 individuals in the Children's Hospital，Chongqing Medical University with idiopathic short stature （ISS） were tested，and the results were compared with 200 normal height controls，using microsatellites and direct sequencing. Results　The prevalence of SHOX deficiency in patients with idiopathic short stature was 10.5%，among which 3 mutations（8.1%）、32 deletions（86.5%） and 2 deletions（5.4%） of CNE9 were found. Compared with the normal，certain dysmorphics had been found，such as BMI，upper segment/height，et al. Conclusion　Certain correlations between genotypes and corresponding phenotypes haved been found in patients with SHOX deficiency.

Key words: idiopthic short stature（ISS）, short stature homeobox-containing gene, phenotypes