Journal: Drug Invention Today

Article Id: JPRS-P col-00003213
Title: DyrkIA gene polymorphism SNP rs2154545 association with mental retardation in Down syndrome
Category: Pharmaceutics
Section: Research Article
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    Aim: Down Syndrome (DS) or trysomy 21 is a genetic abnormality caused when 21st chromosome fails to separate during meiotic division. People with this syndrome are known to have mild-to-severe mental retardation. This syndrome is known for mild-to-severe mental retardation. One of the pivotal genes is DyrkIA, which some of its polymorphism, SNP rs2154545, may cause phenotypical changes in patient. This study is to prove that SNP rs2154545 polymorphism is occurred in DyrkIA gene and to analyze its relationship with mental retardation in DS. Materials and Methods: This is a cross-sectional observational study from 39 subjects’ blood samples. All subjects come from special school, Kodya, Padang, clinically proven to have DS and confirmed that they have trisomy in 21st chromosome by karyotyping analysis. Results: Their DNA samples were analyzed using restriction fragment length polymorphism (RFLP), sequenced, and its contigs were qualitatively analyzed. Multiple alignment and BLAST-NCBI were used to confirm the restriction result. DyrkIA gene rs2154545 polymorphism was observed in the form of homozygote mutant allele (AA) in 5.1% of all samples and 51,3% were mutant heterozygote allele (GA). The rest were wild type (43.6%). Statistical analysis was performed, but there was no significant relationship (P > 0.05) between gene polymorphism and mental retardation. Conclusion: DyrkIA gene rs2154545 polymorphism was proven to exist in some DS patients, but there was no significant relationship between polymorphism with every level of mental retardation (mild, borderline, moderate, and severe).

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    Author(s) Name:

    Eva Chundrayetti 1 *, Indra Ihsan1 , Amel Yanis2

    Affiliation(s) Name:

    1 Division of Children Health Sciences, Dr. M. Djamil Hospital, Faculty of Medicine, Andalas University, Jalan Perintis Kemerdekaan No 94.Padang 25127, West Sumatra, Sumatera, Indonesia,

    2 Division of Mental Health Sciences, Dr. M. Djamil Hospital, Faculty of Medicine, Andalas University, Jalan Perintis Kemerdekaan No 94. Padang 25127, West Sumatra, Sumatera, Indonesia

    *Corresponding author: Eva Chundrayetti, Division of Children Health, Dr. M. Djamil Hospital, Faculty of Medicine, Andalas University, Jalan Perintis Kemerdekaan No. 94.Padang 25127, PO BOX 49,West Sumatra, Indonesia.

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    Author:

    Eva Chundrayetti 1 *, Indra Ihsan1 , Amel Yanis2

    Title:DyrkIA gene polymorphism SNP rs2154545 association with mental retardation in Down syndrome
    Journal:Drug Invention Today
    Vol(issue):11 (March)
    Year:2019
    Page No: (569-574)
  • Experimental Methods Keywords

    Methodology:DNA Extraction,PCR map
    Research Materials:Mental retard patients

Keywords

Down syndrome DyrkIA gene rs2154545 polymorphism Mental retardation

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