Pola Kombinasi Genotip Gen BMP2 Rs235768 A>T Pada Kejadian Celah Bibir Dan Atau Palatum Non Sindromik

Agung Sosiawan, Mala Kurniati, RM Coen Pramono

Sari


Celah bibir dengan atau tanpa palatum (CB/P) adalah suatu kondisi deformitas orofasial yaitu terbentuknya pembukaan atau celah yang tidak wajar pada bibir atau palatum. Sekitar 70% CB/P yang terjadi di populasi adalah non sindromik (NS). Tujuan penelitian ini yaitu mengetahui pola kombinasi genotip gen BMP2 rs235768 A>T pada keluarga pasien CB/P. Sampel DNA yang berhasil diamplifikasi dan direstriksi sebanyak 5 sampel keluarga yang terdiri dari ayah, ibu dan anak dengan kelainan CB/P. Berdasarkan analisis dengan menggunakan enzim restriksi dan software program Finch TV dan Bioedit, penelitian ini mengidentifikasi adanya perubahan basa A men­jadi basa T yang merupakan missense mutasi (Serin – Arginin/TCA-TCT).  Dari hasil pemetaan pada gen BMP2 rs235768 A>T menunjukkan kelima keluarga memiliki kombinasi yang berbeda-beda. Hal yang menarik pada keluarga ke - 3, kombinasi ayah bergenotip AA (Homozigot/common) dan ibu bergenotip TT (Homozigot/uncommon), memiliki anak ke -3 bergenotip AA (Homozigot/common) dengan kelainan CP (Palatoschizis incomplete). Kombinasi genotip yang mungkin dapat terjadi pada anak dari keluarga 4 yaitu 50 % bergenotip AT (Heterozigot), 50% bergenotip TT (Homozigot/uncommon). Kejadian CB/P tidak hanya melibatkan satu faktor keturunan yang berasal dari satu atau kedua orang tua, tetapi suatu kondisi yang bersamaan. Kelainan CB/P yang terjadi pada anak perempuan, diprediksi risiko kekambuhan pada anak berikutnya jauh lebih tinggi.

Kata Kunci


BMP 2; SNP; CB/P; Keluarga

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Referensi


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DOI: https://doi.org/10.33024/jikk.v9i4.8586

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