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Study on the Deficiency of SHOX Gene and the Correlation with Phenotypes and X-ray Deformity of Iss

Author: JieFang
Tutor: ZhuZuo
School: Chongqing Medical University
Course: Pediatrics
Keywords: Idiopathic Short Stature Short stature homeobox gene Phenotypic X-ray
CLC: R816.92
Type: Master's thesis
Year: 2011
Downloads: 15
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Abstract


Objective: To study the relationship in the short stature homeobox gene deletion and mutation phenotype and X-ray skeletal features indicators (short stature homeobox-containing gene, SHOX) of idiopathic short stature (Idiopathic short stature, ISS). Methods: microsatellite analysis, exon and enhance regulatory sequences (conserved non-coding DNA elements) CNE9 sequencing of Chongqing Medical University Children Hospital outpatient patients collected from July 2008 to July 2010 from 354 cases of ISS patients SHOX gene analysis, the SHOX gene detected in patients with abnormal phenotype and X-ray skeletal indicators and the normal control group and no SHOX gene abnormality the ISS group comparison analysis. Results: 1.354 cases ISS patients found SHOX gene abnormality in 37 cases (10.5%), which mutations in exon 3 cases (8.1%), and lack of 32 cases (86.5%), CNE9 missing 2 cases (5.4%). SHOX gene abnormality group SHOX gene abnormal group was no significant difference in age and height, but the SHOX gene abnormality group BMI (-0.067 ± 0.975) SHOX gene abnormality group BMI (-0.224 ± 1.060) comparing the difference statistically significant (P lt; 0.01). Analysis of variance was a significant difference among the three groups (P lt; 0.05) phenotypic indicators are: sitting height / height, arm span / height, forearm length / height, upper arm length / height, long forearm / upper arm length, leg length / height, small problem circumference / height, limbs, torso, the correction tall and extremities and trunk than the poor; indicators there was no significant difference: the forearm circumference / height and arm circumference / height. 4. SHOX gene abnormality group compared with the normal control group, sitting height / height increase (P lt; 0.001); limbs, torso ratio (P lt; 0.001) and upper arm length / height (P = 0.022), leg length / height ( P = lt; 0.001) decreases; SHOX gene abnormality group with SHOX gene abnormalities compared to the ISS, long forearm / upper arm length increase (P = 0.024), forearm length / height decreases (P = 0.017); sitting height / height ratio decreases (P lt; 0.001) increased (P = 0.026) and limbs, torso. 6.3 indicators in the SHOX gene abnormality group with no significant difference between the normal control group, only in the SHOX gene abnormality group SHOX gene jet lag heterosexual abnormal group the two groups was statistically significant, namely: forearm length / height (P = 0.017), forearm length / upper arm (P = 0.024) and correction height and limbs, torso than the difference (P lt; 0.001). Analysis of variance significant difference (P lt; 0.05) of three sets of X-ray skeletal features indicators: high radial vertical height difference between the radius and ulna distal radius and ulna distal articular surface angle. One of the most prominent SHOX abnormalities group ulnar radial distal intra-articular side of the angle between significantly reduce not only the normal control group significantly with differences (P lt; 0.01), and with the SHOX gene without abnormal group comparison also there is a significant difference (P lt; 0.01). Conclusion: 1. SHOX gene abnormality of this study, patients were idiopathic short stature ratio is about 10.5%. 2. SHOX gene abnormality phenotypic changes in patients with BMI, sitting height / height, forearm length / upper arm length; forearm length / height, limbs, torso ratio decreases; extremities and trunk ratio is less than the correction Height. Changes in indicators of SHOX gene abnormal X-ray bone radioulnar articular distal side angle decreases, the vertical height and radial the distal radioulnar height difference increase. SHOX gene abnormality in patients with skeletal features of the X-ray changes women than men is more obvious with age bones become more evident trend. 5 of the phenotype and X-ray bone indicators change to provide the basis for the clinical screening SHOX gene abnormality.

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CLC: > Medicine, health > Of Medical > Radiation Medicine > Each location and course of disease X - ray diagnosis and therapy > Pediatrics
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