الفهرس | Only 14 pages are availabe for public view |
Abstract Background: Down syndrome (DS) is the most common neurodevelopmental disorder of known genetic cause. Similar to the general population, individuals with DS may be at risk for iron deficiency anemia (IDA). Matriptase -2 (MT-2), encoded by TMPRSS6 gene is an essential component that detects iron deficiency (ID), represses hepcidin transcription and permits enhanced iron absorption. Ferroportin (FPN1) is an iron exporter protein which is responsible for absorbing and releasing iron to reproduce new erythocytes. Objective: The aim of this study was to recognize the relation of TMPRSS6 rs855791 and FPN1 gene promoter-1355 G/C single nucleotide polymorphisms to susceptibility of IDA in Egyptian DS patients. Subjects and methods: The study was conducted on one hundred DS patients diagnosed by clinical examination and karyotyping analysis. One hundred age and sex matched healthy children were also enrolled as a control group. TMPRSS6 rs855791 and FPN1 gene promoter-1355 G/C single nucleotide polymorphisms had been detected by restricted fragment length polymerase chain reaction (PCR-RFLP) |