Research Article
Association Between The SNP Rs2154545 Polymorphism on The DyrkIA Gene and Intellectual Disability in Down Syndrome
@INPROCEEDINGS{10.4108/eai.13-11-2018.2283595, author={Eva Chundrayetti and Indra Ihsan and Amel Yanis}, title={Association Between The SNP Rs2154545 Polymorphism on The DyrkIA Gene and Intellectual Disability in Down Syndrome}, proceedings={Proceedings of the 1st EAI International Conference on Medical And Health Research, ICoMHER November 13-14th 2018, Padang, West Sumatera, Indonesia}, publisher={EAI}, proceedings_a={ICOMHER}, year={2019}, month={5}, keywords={down syndrome dyrkia gene intellectual disability rs2154545 polymorphism}, doi={10.4108/eai.13-11-2018.2283595} }- Eva Chundrayetti
Indra Ihsan
Amel Yanis
Year: 2019
Association Between The SNP Rs2154545 Polymorphism on The DyrkIA Gene and Intellectual Disability in Down Syndrome
ICOMHER
EAI
DOI: 10.4108/eai.13-11-2018.2283595
Abstract
Down syndrome, or trisomy 21, is a genetic abnormality caused when chromosome 21 fails to separate during meiotic division, resulting in offspring with 47 chromosomes. People with this syndrome are known to have mild to severe intellectual disability. The purpose of this study is to demonstrate whether SNP rs2154545 polymorphisms are associated with theDyrkIA gene and to analyze its relationship with intellectual disability in Down syndrome. This was a cross-sectional observational study that used blood samples from 39 subjects. Their DNA samples were analyzed using restriction fragment length polymorphism (RFLP), the samples were sequenced, and the contigs were qualitatively analyzed. Multiple alignment and BLAST–NCBI was used to confirm the restriction result. The rs2154545 polymorphism on the DyrkIA gene was observed in the form of homozygote mutant alleles (AA) in 5.1% of all samples and heterozygote mutant alleles (GA) in 51.3% of all samples. The remaining samples were wild-type (43.6%). Statistical analysis was performed, but there were no significant relationships (p > 0.05) between gene polymorphism and intellectual disability. The rs2154545 polymorphism on the DyrkIA gene was proven to exist in some people with Down syndrome, but there were no significant relationships between the polymorphism and every category of intellectual disability(that is, mild, borderline, moderate, and severe)
