Down Sendromunun Tanısına Yönelik Seçilmiş Metabolitlerin Gaz Kromatografisi Kütle Spektrometrisi ile Tayini
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Down Syndrome is a common genetic disorder arising due to the condition that humans having an additional chromosome within 21st chromosome couple. Metabolomics is identification and quantification of small molecule metabolites (molecular weight <1000 Da) presence in tissues, cells and physiological fluids within a certain period of time and determining their amounts. Metabolites are midproducts of biochemical reactions and take part in bonding metabolic paths, each different than each other, occuring in living cell. Considered to be differentiators of early diagnosis of Down Syndrome, 2-Hydroxybutyric acid, 3-Hydroxybutyric acid, β-Hydroxyisovaleric acid, Urasil, Glutamic acid, Maltose and Melezitose metabolites were chosen. Analysis of the metabolites were conducted by GC-MS method using %5 phenyl %95 dimethylpolisiloxan (30 m × 0,25 mm, 0,25 μm) capillary column, at 60oC (1 min), 10oC min-1 with 200oC and 30oC min-1 with 320oC 6 min oven temperature program, as helium mobile phase and flow rate of 2,80 mL min-1 and adding myristic acid-d27 as internal standard. Developed method was validated by parameters of stability, selectivity, linearity, accuracy, precision, repeatabilty, sensitivity, robustness, ruggedness and system compatibility. Developed and validated method was applied to plasma samples taken from pregnants diagnosed with Down Syndrome and healthy pregnants and found to be statistically different.