SHOX Gene Mutation Detection And Analysis Of Children With Idiopathic Short Stature In Chuangchun Area

Objects：Idiopathic short stature(ISS)refers to the unexplained short stature, is the mostcommon cause of short stature in children period. In the various factors ofdetermining the children’s height, genetic factors play a major role. The proteinencoded by short stature homeobox gene(SHOX)plays an important role as atranscription factor in the regulation of growth. Abnormality of SHOX gene hasgreat correlation with ISS and there are regional differences. The study, based on thechildren with ISS in Changchun area, screens and analyses the developmentrelated SHOX gene mutation, meanwhile, the study also detects the growthcorrelation factor, to provide a theoretical basis for finding and investigating thedetection and to provide a theoretical basis for the diagnoisis and therapy of thechildren with ISS in changchun region.Methods：1. The object of study: The case group is a total of209patients,including130cases of boys and79cases of girls, diagnosed with ISS in endocrineoutpatient of Changchun City children’s Hospital from January2012to December2012. The control group is a total of50healthy children, including31cases of boysand19cases of girls, who had a medical examination in physical examination centerof Changchun City children’s Hospital from January2012to December2012.2. Whole blood DNA of all subjects was extracted from blood samples byphenol chloroform extraction method, amplified the exon2of SHOX gene by PCR.The PCR products of a random sample of30children with ISS and30normalchildren were sequenced by sequencer and were compared with SHOX gene inGNENBANK.3. The IGF-1level in serum of subjects was determining by enzyme-linkedimmunosorbent assay(ELISA). To analyze the diagnostic value of ISS, the IGF-1level of normal control group, the abnormal SHOX gene group and the no abnormalSHOX gene group with ISS were compared between the two-two groups. Results：1. The constituent of the subjects had no significant difference in sex and agebetween the case group and the control group.2. The SHOX gene sequencing of the control group was not found in deletion ofC and no base transition change.10cases of30cases of ISS (33.3%) werefound in SHOX gene abnormality, including8cases with deletion of C,2cases withSHOX gene mutation.3. The IGF-1level in serum of ISS patients lower than that of normal controlgroup, the difference has statistical significance. The IGF-1level in serum of ISSpatients without mutation was significantly lower than that of normal control group,the difference has statistical significance. The IGF-1level in serum of ISS patientswith mutation was significantly lower than that of normal control group, thedifference has statistical significance. The IGF-1level in serum of ISS patientswith mutation was not significantly lower than that of ISS patients without mutation,the difference has not statistical significance.Conclusion：1. SHOX gene mutation exists in the ISS patients of Changchun area. Themutation may be one of the causes of ISS in Changchun child.2. The IGF-1level of serum with ISS significantly decreased. IGF-1levelassociated with the pathogenesis of idiopathic short disease because of ISS3. Through screening and mutation analysis of SHOX gene, the molecularetiology of ISS children in Changchun area was clear, and the developing of genescreening in ISS children was laid the foundation.