Abstract
The etiology of Cancer disease has been related to polymorphisms in the genes encoding the folate metabolizing enzymes methylenetetrahydrofolate reductase (MTHFR). Despite several studies having linked Down syndrome to genetic factors, the specific etiology remained unclear. Our study aimed to investigate maternal MTHFR gene polymorphism and its risk of Cancer disease. This study was done during the period November 2019 and October 2020. We investigated 132 (80 newborn babies with and 52 healthy individuals as a control) their ages ranging from 14 to 22 years old at (Hiwa Institute for Deaf and Mutes) in Arbil city, Kurdistan/Iraq. Our study revealed that maternal genetic polymorphism of MTHFR EXON8-1261-1395 gene among all samples was only seen among patient samples rather than the control group were detected by PCR. In addition, sequencing results showed the presence of some mutation among polymorphism group (Deletion A) in two different nucleotide regions and there are two sites of (Substation C to T) in other nucleotide regions (105-108). The present finding supports the association of maternal MTHFR genotype polymorphism and risk factors and is associated with the presence of many abnormalities such as Cancer disease in the offspring. We suggest that the identification of maternal MTHFR genotype polymorphism should be taken concern and should be used as a critical marker for diagnosis of DS in babies.
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