REMARKABLE ASSOCIATION OF THE HIGHLY FREQUENT rs1801133 SNP OF MTHFR GENE WITH GROWTH HORMONE DEFICIENCY IN CHILDREN

Abstract

This study was conducted to investigate the possible association of the rs1801133 SNP located in the methylenetetrahydrofolate reductase (MTHFR) gene through for the development of growth hormone deficiency in Iraqi children. In this study, one genetic locus of 232 bp was designed for amplification. In this locus, a high-frequency single nucleotide polymorphism (SNP) rs1801133 was targeted. Then, a direct sequencing stratagem was accomplished for designed the PCR amplicons to evaluate the pattern of these SNPs variation among the investigated population. Results identified three forms of the highly polymorphic rs1801133 SNP, namely the normal homozygous (G/G), the mutant heterozygous (G/C), and the mutant homozygous (C/C). Both mutant forms were identified in the majority samples of patients, while the normal G/G form was observed in the majority of the control samples.In conclusion, rs7007634 SNP is a possible causative SNP for our development of the growth hormone deficiency in the children, which revealed a remarkable association with the progression of this disease.