Tropical Genetics

Identification and Characterization of Genetic Variants in the Human ACAN Gene Using the ClinVar Database

Arielda Putri Aditya — 2026-05-31

The ACAN gene plays an important role in skeletal growth and development, so mutations in this gene are associated with various disorders such as short stature and skeletal dysplasia. This study aims to identify and characterize ACAN gene mutation variations using the ClinVar database at the National Center for Biotechnology Information to support the interpretation of pathogenicity and genetic diagnosis. This study was conducted in silico with a descriptive-comparative approach using ACAN gene variant data from the ClinVar database at the National Center for Biotechnology Information. Pathogenic and likely pathogenic variants were analyzed and grouped based on germline classification, molecular consequence, and variation type. The results of the ClinVar database analysis at the National Center for Biotechnology Information showed that most ACAN gene variants are categorized as pathogenic, with missense variants, frameshift variants, and single-nucleotide variants as the most dominant mutation types found. Genetic variations in the ACAN gene have a strong clinical association with skeletal growth disorders, especially short stature, so that ACAN gene variant analysis has the potential to support genetic diagnosis, prognosis, and genetic counselling in skeletal disorders. This study also shows that the use of bioinformatics databases can help understand the relationship between genetic variation and disease more systematically.

Identification and Categorization of Misconceptions on Mutations in Highschool Biology Textbooks

Mohammad Alfin Rizkiandi — 2026-05-31

This study examined misconceptions found in Grade XII Biology textbooks, specifically in the topic of mutation. A qualitative descriptive approach was employed using content analysis on four Biology textbooks commonly used in senior high schools in Pontianak. Key concepts were identified based on Core Competency 3.8 and compared with credible references from genetic literature. Potential misconceptions were verified by two experts and categorized into five types of errors according to the classification by Dimenli, Cardak, and Oztas: misidentification, oversimplification, overgeneralization, undergeneralization, and outdated concepts or terminology. Data validity was ensured through triangulation techniques involving teacher interviews, textbook content analysis, and documentation. The results indicate that two out of the four textbooks analyzed contain several misconceptions in presenting mutation material, ranging from definitions and types of gene mutations to chromosomal mutations. These findings highlight the importance of evaluating textbook content as a primary learning resource to prevent conceptual misunderstandings among students. This research is expected to serve as a reference for teachers and students in selecting and utilizing Biology textbooks more critically.

Optimasi Peningkatan Kualitas DNA Genom Sederhana Menggunakan Modifikasi Metode Boiling Berbasis Chelex dan Proteinase K

Annisa Muthmainnah — 2026-05-31

Ekstraksi DNA merupakan tahapan krusial dalam analisis molekuler. Metode boiling dikenal sebagai teknik ekstraksi sederhana dan cepat, namun sering menghasilkan DNA dengan kemurnian dan stabilitas yang rendah akibat kontaminasi protein serta ion logam. Penelitian ini bertujuan untuk membandingkan efektivitas empat metode ekstraksi DNA, yaitu boiling (B), boiling dengan Chelex, boiling dengan Proteinase K , serta boiling dengan kombinasi Chelex dan Proteinase K . Hasil pengukuran konsentrasi menunjukkan bahwa metode B+PK menghasilkan konsentrasi DNA tertinggi (320,40 ng/µL), diikuti oleh Boiling +Chelex+Proteinase K (268,50 ng/µL), B (179,15 ng/µL) dan Boiling +Chelex (151,00 ng/µL). Nilai kemurnian (A260/A280) berada pada rentang 1,78–1,92, yang menunjukkan DNA relatif murni. Analisis visual melalui elektroforesis menunjukkan bahwa semua metode berhasil mengekstraksi DNA, namun pita DNA paling jelas dan tegas diperoleh melalui metode Boiling +Chelex+Proteinase K. Hasil ini menunjukkan bahwa kombinasi Chelex dan Proteinase K dalam metode boiling mampu meningkatkan kualitas visual dan stabilitas DNA, sehingga berpotensi menjadi metode alternatif yang sederhana, murah, dan efektif untuk keperluan analisis DNA berbasis PCR.

Phylogenetic Analysis of the Relationship Between Puma Concolor and the Genus Panthera Within The Family Felidae Based on the COI Gene

Luthfiah Nurfajriyah — 2026-05-31

Puma concolor exhibits morphological similarities to large cats of the genus Panthera, which often lead to ambiguity in assessing its phylogenetic relationships. This study aimed to analyze the phylogenetic position of Puma concolor within the family Felidae using the mitochondrial gene Cytochrome Oxidase Subunit I (COI). Phylogenetic analyses were conducted on 28 Felidae species with three outgroup species using MEGA4 and PAUP*. The results showed that Puma concolor is clearly separated from the Panthera clade and occupies an independent phylogenetic position, supported by bootstrap values as well as Consistency Index and Retention Index values greater than 0.50. These findings confirm that the morphological similarities between pumas and large cats are the result of convergent evolution and support the classification of Puma concolor within the subfamily Felinae.