Abstract: Objective：To study the differences of growth hormone receptor（GHR） gene between children with short stature （study group）and normal children（control group）in molecular level by comparing　genotype distribution of GHR gene exon 3 deletion polymorphism. Methods：In our study，we selected 143 individuals with short stature and 172 individuals with normal stature by the study criterions，diagnosed in General Hospital of Tianjin Medical University during 2009～2010. 3 ml venous blood was withdraw and the genomic DNA was isolated from the whole blood cells with the use of a DNA Blood Kit, a simple multiplex PCR assay was designed. Finally calculated the allele frequency and genotype frequency in study and control groups by SPSS16.0. Results: The frequencies of genotypes fl/ fl were much higher than the others in both study and control groups. The allele frequency and distributions of genotype between two groups had a significant difference by χ2 calculation in 0.05 level. Conclusion: Differences in genotype distribution of GHR gene exon 3 deletion polymorphism exist in children with short stature and children with normal stature.

Key words: Growth hormone receptor, Exon 3, Gene polymorphism, Distribution, Short stature , Children