中国实用儿科杂志2011，Vol.26Issue(5)：377-381,5.
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
Study on the deficiency of SHOX gene and its correlation with corresponding phenotypes of ISS
摘要
Abstract
Objective To study the deficiency and mutation of short stature homeobox containing (SHOX) gene and the relationship between genotypes 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.关键词
特发性矮小/SHOX基因/表型Key words
idiopthic short stature (ISS)/ short stature homeobox-containing gene/ phenotypes分类
医药卫生引用本文复制引用
解芳,朱岷,曹艳丽,熊丰..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[J].中国实用儿科杂志,2011,26(5):377-381,5.基金项目
《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) （200905005）
