Study on the deletions of SHOX gene and the correlation with corresponding phenotypes / 重庆医科大学学报

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。