Study on the deletions of SHOX gene and the correlation with corresponding phenotypes

CAO Yan-li; et al

doi:10.13406/j.cnki.cyxb.2010.06.034

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Study on the deletions of SHOX gene and the correlation with corresponding phenotypes

更新时间：2024-01-17

- Study on the deletions of SHOX gene and the correlation with corresponding phenotypes
- Journal of Chongqing Medical University Vol. 35, Issue 6, Pages: 853-856(2010)
- 作者机构：
  
  重庆医科大学附属儿童医院内分泌科
- 作者简介：
- 基金信息：
- DOI：10.13406/j.cnki.cyxb.2010.06.034
  CLC： R725.8
- Published：2010，
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[1]曹艳丽,朱岷,解芳,熊丰.SHOX基因异常及其表型特征的研究[J].重庆医科大学学报,2010,35(06):853-856.

CAO Yan-li, et al. Study on the deletions of SHOX gene and the correlation with corresponding phenotypes. [J]. Journal of Chongqing Medical University 35(6):853-856(2010)
[1]曹艳丽,朱岷,解芳,熊丰.SHOX基因异常及其表型特征的研究[J].重庆医科大学学报,2010,35(06):853-856. DOI： 10.13406/j.cnki.cyxb.2010.06.034.

CAO Yan-li, et al. Study on the deletions of SHOX gene and the correlation with corresponding phenotypes. [J]. Journal of Chongqing Medical University 35(6):853-856(2010) DOI： 10.13406/j.cnki.cyxb.2010.06.034.

摘要

目的:研究矮小患者中矮小同源盒（Short stature homeobox containing

SHOX）基因的异常及与表型之间的关系。方法:采用微卫星分析及外显子测序对203例矮小症患者进行基因分析

并测量体征

收集其左前臂正位及左腕部正位X片

观察表型特征。结果:203例矮小患者中1例外显子突变

11例缺失;体征测量示SHOX异常引起某些体征异常

如短前臂和短下肢等。结论:本研究所选矮小患者的SHOX异常的频率是5.9%

发现基因异常与表型之间的具有某些相关性。

Abstract

Objective:To study the deficiency ofshort stature homeobox containing (SHOX)gene deficiency ofshort stature and the relationship between genotypes and its corresponding phenotypes. Methods:Microsatellite analysis and direct sequencing were selected to analyze the deletions and mutations of SHOX gene in 203 cases of short stature;in addition

anthropometric measures were assessed and radiographs of the left forearms and wrists in patients were collected to observe their phenotypes. Results:one mutation and eleven deletions were found;Detailed examination revealed certain dysmorphics

such as short forearm and lower leg

et al. Conclusion:In our study

the prevalence of SHOX deficiency in patients with short stature was 5.9%

and certain correlations had been found between genotypes and corresponding phenotypes。

关键词

矮小同源盒基因特发性矮小表型

Keywords

Short stature homeobox containing geneIdiopathic short staturePhenotypes

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