SISTEMATIK LITERATUR REVIEW: DAMPAK MUTASI GENETIK TERHADAP EKSPRESI GEN
DOI:
https://doi.org/10.62281/n9yvbg84Keywords:
Ekspresi Gen, Mutasi Genetik, Regulasi, Splicing, TranskripsiAbstract
Pemahaman mengenai bagaimana mutasi genetik memengaruhi ekspresi gen sangat penting untuk menjelaskan variasi fenotip, respons seluler, serta mekanisme terbentuknya berbagai penyakit kompleks. Penelitian ini bertujuan mensintesis temuan empiris mengenai dampak mutasi genetik terhadap ekspresi gen melalui tinjauan literatur sistematis yang berpedoman pada PRISMA 2020. Sebanyak 500 artikel teridentifikasi pada pencarian awal melalui database ilmiah bereputasi, kemudian disaring secara bertahap berdasarkan relevansi topik, kejelasan metodologi, dan ketersediaan data yang dapat diverifikasi. Setelah melalui proses seleksi judul, abstrak, dan telaah isi penuh, hanya 13 artikel yang memenuhi seluruh kriteria inklusi dan dianalisis lebih lanjut. Hasil kajian menunjukkan bahwa mutasi genetik memengaruhi ekspresi gen melalui berbagai mekanisme, termasuk perubahan proses splicing, gangguan aktivitas promoter atau enhancer, serta regulasi yang bergantung pada jaringan dan kondisi fisiologis organisme. Temuan tersebut menegaskan bahwa pengaruh mutasi terhadap ekspresi gen bersifat kontekstual dan dipengaruhi oleh interaksi molekuler yang kompleks. Kajian ini memberikan pemahaman terintegrasi mengenai bagaimana berbagai tipe mutasi membentuk pola ekspresi gen, sehingga menjadi dasar penting bagi penelitian biologi molekuler, biomedis, dan studi genomik selanjutnya
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