MUTASI GENETIK PADA KASUS GAGAP: STUDI PUSTAKA

  • Komang Ari Bagus Suastika Fakultas Kedokteran Universitas Wijaya Kusuma Surabaya, Jawa Timur, Indonesia
  • Retno Dwi Wulandari Fakultas Kedokteran Universitas Wijaya Kusuma Surabaya, Jawa Timur, Indonesia

Abstract

Gagap (stuttering) adalah suatu gangguan dalam berbicara yang ditandai dengan terjadinya pengulangan atau perpanjangan dan penghentian bunyi atau suku kata. Gagap dapat diderita oleh segala usia, terutama pada usia anak-anak (developmental stuttering) yang dapat menyebabkan gangguan kefasihan dan keterlambatan dalam hal berbicara. Insiden seseorang pernah mengalami gagap dalam hidupnya adalah sekitar 5% populasi dunia atau sekitar 60 juta orang. Studi menunjukkan terdapat beberapa gen yang berkaitan dengan terjadinya gagap. Mutasi pada gen tersebut merupakan faktor risiko gagap di kemudian hari. Studi Pustaka ini akan membahas mutasi genetik pada gagap dalam 4 bagian,yaitu (a) klasifikasi, (b) prevalensi, (c) patofisiologi, dan (d) etiologi. Sebagai kesimpulan, pada penderita gagap, gen yang mengalami mutasi, yaitu gen GNPTAB (kromosom 12q), GNPTG (kromosom 16p13.3), NAGPA (kromosom 16p.13.3), AP4E1 (kromosom 15q21.2), gen SLC6A3 (kromosom 5p15.3), dan DRD2 (kromosom 15q23), gen CYP17 dan CYP19 (kromosom 10q). Dari mutasi pada gen tersebut, yang paling sering ditemukan adalah mutasi pada gen GNPTAB, GNPTG, dan NAGPA. Perbedaan mutasi yang ditemukan dipengaruhi oleh perbedaan populasi dan besar sampel yang diteliti. Selain faktor genetik, terdapat faktor nongenetik sebagai faktor risiko gagap. Diperlukan penelitian untuk mengetahui mutasi gen pada kasus gagap di Indonesia, dan faktor yang memengaruhi ekspresi gen tersebut.


Kata kunci: gagap, gen, mutasi


DOI : 10.35990/mk.v5n4.p424-435

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Published
2022-12-31
How to Cite
BAGUS SUASTIKA, Komang Ari; WULANDARI, Retno Dwi. MUTASI GENETIK PADA KASUS GAGAP: STUDI PUSTAKA. Medika Kartika : Jurnal Kedokteran dan Kesehatan, [S.l.], v. 5, n. 4, p. 424-435, dec. 2022. ISSN 2655-6537. Available at: <http://medikakartika.unjani.ac.id/medikakartika/index.php/mk/article/view/316>. Date accessed: 02 feb. 2023.