İdiyopatik boy kısalığı olan hastalarda Floresan In Situ Hibridizasyon ve dizi analizi yöntemleri ile SHOX geninin araştırılması

SHOX gene analysis with Fluoresant in situ Hybridization and sequence methods in idiopathic short stature patients Height increase is affected by both genetic and enviromental factors and short stature is defined as height below 3 percantille or under -2 SD (Standart deviation skore) in the same age group. Short stature can be named as ?idiopathic? if there are no accompanying major abnormalities or genetic syndromes, endocrine problems, chronic or systemic enfections, nutritional problems and psychosocial factors. There are many known gene mutations associated with idiopathic short stature. Short Stature Homeobox Gene (SHOX) located on X and Y chromosomes? pseudootosomal regions (PAR 1) is one of the short stature genes which has been frequently mentioned recently and the mutations of SHOX gene are responsible for % 2-14 of idiopatic short stature cases. In this project, firstly cytogenetic analyses of the 37 idiopathic short stature patients were performed and were revealed as normal karyotypes. SHOX gene deletion was screened by FISH technique and none of them had deletion. Finally the DNA isolations (24 of the 37 patients) and sequencing of the all coding exons (2nd to 6th) of the SHOX gene were performed and no mutation was detected. As a result in this study by using accurate algorithm, deletion/mutation of the SHOX gene was studied by FISH and DNA sequencing.