Abstract:

Short size is controlled by genetic and environmental factors and affects 2-3% of the total population. Short Stature Homeobox Gene (SHOX) is located in the psedo-to-zomal areas of the short arms of X and Y chromosomes and is not exposed to X inactivation. Genetic divisions or mutations have been shown to cause Turner Syndrome (TS), Idiopathic Boy Shortness (ICB) and Leri-Weill Discondrosteosis (LWD) in humans. In the study, in individuals with CBS, the full divisions of the SHOX gene were intended to be scanned by the molecular genetic method and the mutations of Y35X and A-337G identified in CBS in LWD patients in the FISH method and exon 2. In this study, 61 individuals identified to have the Idiopathic Short Boy (ICB) were studied. Standard cytogenetic techniques showed that cases had a normal caryotype. 8 individuals with the shortest colour from the case group were selected and SHOX genes were checked with FISH technique. For all cases, exon 2 was multiplied by the PCR method and Rsa I and Alu I enzymes were used to detect mutations with Y35X and A-337G. In 61 individuals with an idiopathic short size, no abnormality was found as a result of conventional cytogenetic, molecular cytogenetic and molecular genetic examinations. In idiopathic short-sized individuals, it is very important that the study of conventional cytogenetic and molecular cytogenetic techniques, as well as molecular genetic techniques, is also comprehensive. The study shows that it would be more appropriate to use methods to detect all mutations in the gene in mutation scans in the SHOX gene, especially SSCP or DNA sorting. We consider that, despite the diseases that are associated with the short size or which are believed to be associated with, measures to be taken and improving the quality of life of the short size individuals will lead the study of the SHOX gene and other growth-related genes.

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