The Relationship of the Gene Allele Apolipoprotein E with Height in Down Syndrome 21

Abstract

Background: Apolipoprotein E (APOE) is a form of polymorphic protein located on the long arm of chromosome 19 at position 13.2 (19q13.2), translated into three alleles of the gene, namely normal allele 3 and dysfunctional allele 2 and 4. Patients with Down's Syndrome Trisomy 21 may have different allele frequencies and combinations of APOE gene genotypes with controls, which can result in decreased cognitive function and inhibition of bone growth. This study aims to analyze the relationship of the Apolipoprotein E Gene Allele with the height of patients with Down Syndrome Trisomy 21. Methods: This research is a cross sectional study with a comparative cross-sectional study design. Results: The sample used was the result of DNA extraction of patients with Down's Syndrome Trisomy 21 as many as 33 samples and 33 controls stored in the Biomedical Laboratory, Faculty of Medicine, Andalas University, Padang, Indonesia. The next step is to examine the APOE gene polymorphisms using PCR and sequencing techniques. The results showed that there was a significant relationship between the APOE gene allele and height (p=0.009). Conclusion: This study concluded that there was a significant relationship between the APOE gene allele and the height of patients with Down Syndrome Trisomy 21. Key words: Down's Syndrome, Apolipoprotein E, Height.