{"id":3804,"date":"2026-06-15T11:55:21","date_gmt":"2026-06-15T03:55:21","guid":{"rendered":"https:\/\/pm11.corsivalab.xyz\/sciencewerke.indo\/?p=3804"},"modified":"2026-06-15T12:02:08","modified_gmt":"2026-06-15T04:02:08","slug":"deteksi-genotipe-dan-cnv-cyp2d6-sekaligus-dengan-pcr-maldi-tof-massarray","status":"publish","type":"post","link":"https:\/\/pm11.corsivalab.xyz\/sciencewerke.indo\/deteksi-genotipe-dan-cnv-cyp2d6-sekaligus-dengan-pcr-maldi-tof-massarray\/","title":{"rendered":"Deteksi Genotipe dan CNV CYP2D6 Sekaligus dengan PCR-MALDI-TOF (MassARRAY)"},"content":{"rendered":"
\"ASD<\/figure>\n

Gen\u00a0CYP2D6<\/span>\u00a0(\u00a0Cytochrome P450 family 2 subfamily D member 6\u00a0<\/span>) adalah salah satu enzim yang diproduksi di liver dan berperan penting dalam metabolisme obat (farmakogenomik) seperti\u00a0antidepresan, antipsikotik, analgesik dan obat antikanker.<\/span>\u00a0Variasi genetik pada CYP2D6 dapat memengaruhi aktivitas enzim, sehingga beberapa orang memiliki enzim yang berfungsi normal, kurang aktif, atau bahkan tidak aktif sama sekali. Terdapat lebih dari 170 jenis variasi gen (polimorfisme) yang berdampak pada metabolisme suatu obat.\u00a0CYP2D6<\/span>\u00a0terletak di kromosom 22q13.2 dengan jumlah 9 ekson dan panjang 4408 bp DNA<\/span><\/p>\n

 <\/p>\n

\"\"<\/center>
Gambar 1.Variasi pada gen\u00a0CYP2D6<\/span><\/p>\n

<\/center> <\/p>\n

Association for Molecular Pathology (AMP) merilis rekomendasi dalam pemeriksaan genotyping allel pada gen\u00a0CYP2D6.<\/span>\u00a0Dari hasil rekomendasi tersebut terdapat AMP tier 1 yang berisikan variasi allel minimum yang dibutuhkan untuk melakukan pengujian klinis, dan AMP tier 2 yang berisikan varian allel yang yang tidak termasuk dalam AMP tier 1, namun dapat dipertimbangkan untuk diujikan.<\/p>\n

 <\/p>\n

Tabel 1. AMP tier 1 untuk variasi allel\u00a0CYP2D6<\/span><\/p>\n

<\/center>

\"sciencewerke\"<\/center> <\/p>\n

Tantangan dalam deteksi CPY2D6 varian<\/h3>\n

Jika dilihat dari etnisnya, 45% populasi\u00a0CYP2D6.<\/span>\u00a0memiliki non functional hybrid alleles termasuk peruabahn exon 9, *13, and *68. Permasalahan yang muncul adalah metode metode yang ada saat ini tidak di desian untuk membedakan variasi struktur antar ekson, atau tidak dapat mendeteksi Copy number variation (CNV). Hal berdampak pada kesalahan dalam menentukan metabolisme obat. Variasi genetik yang mungkin terjadi meliputi single nucleotide polimorfisme, splicing variant,dan copy number varian seperti duplikasi dan delesi gen. AMP merekomednasikan variasi allel hybrid yang perlu di deteksi pada\u00a0CYP2D6.<\/span>\u00a0dan CYP2D7 adalah diantaranya\u00a0CYP2D6.<\/span>\u00a0*4(*4N),\u00a0CYP2D6.<\/span>\u00a0*13,\u00a0CYP2D6.<\/span>\u00a0*36,\u00a0CYP2D6.<\/span>\u00a0*68,\u00a0CYP2D6.<\/span>\u00a0*83 yang tergolong dalam AMP tier 2. Untuk mendeteksi variasi tersebut dibutuhkan set primer yang mengenali titik 5UTR, exon1 &9 serta intron 2,5, dan 6.<\/p>\n

 <\/p>\n

Tabel 2. Copy number detection pada hybrid allel\u00a0CYP2D6.<\/span>\u00a0dan\u00a0CYP2D7.<\/span><\/p>\n

<\/center>

\"sciencewerke\"<\/center> <\/p>\n

Tingkatkan akurasi genotyping dan CNV\u00a0CYP2D6.<\/span>\u00a0dengan PCR-MALDITOF MassARRAY<\/h3>\n

PCR merupakan metode molekular yang dapat digunakan untuk mendeteksi material genetik dalam organisme termasuk virus, bakteri ataupun variasi genetik yang ada pada manusia (SNP). Berbeda dari metode lainnya, PCR dinilai lebih sensitive karena mampu menggandakan materi genetik dari 1 copy menjadi miliaran copy dalam satu reaksi. Pengembangan PCR dalam mendeteksi SNP telah banyak digunakan seperti PCR HRM, PCR-RFLP,dan TaqMan Probe. Namun metode yang saat ini sulit untuk mendeteksi variasi yang beragam pada single gen. PCR-MALDITOF menjadi solusi karena mampu melakukan genotyping serta mendeteksi CNV secara bersamaan.<\/p>\n

 <\/p>\n

\"sciencewerke\"<\/center>
Gambar 2. Perbandingan Real-time PCR, MassARRAY dan NGS<\/p>\n

<\/center> <\/p>\n

Malditof (Matrix Assisted Laser Desorption Ionization – Time Of Flight) merupakan metode pemisahan dengan molekul berdasarkan berat molekul biomolekul (DNA) dengan bantuan laser. DNA hasil amplifikasi pada proses PCR akan ditembak dengan laser sehingga bermuatan positif dan terpisah berdasarkan mass-to-charge ratio (m\/z). Ion molekul yang kecil akan terpisah lebih cepat dibandingkan ion molekul yang besar. Dibandingkan dengan real-time PCR, MassARRAY memiliki coverage yang jauh lebih banyak hingga 10 -100 target. Selain itu, MassARRAY mampu membedakan satu nukleotida berdasarkan berat molekulnya.<\/p>\n

 <\/p>\n

Baca Juga :<\/strong>\u00a0Kabar Lingkungan Sciencewerke:\u00a0Scientific Environmental Investigation<\/a><\/p>\n

 <\/p>\n

VeriDose\u00ae Core Panel merupakan kit genotyping yang mendeteksi 16 target gen dengan variasi 85 SNP. Kit ini telah memenuhi rekomendasi dari asosiasi molekular pathology (AMP) baik tier 1 maupun 2. Kit ini dapat dikombinasikan dalam sekali running bersamaan dengan VeriDose\u00a0CYP2D6.<\/span>\u00a0CNV Panel, yang dapat mendeteksi CNV yang ada pada hybrid allel (22 titik 7 region pada gen\u00a0CYP2D6<\/span>-CYP2D7).<\/p>\n

 <\/p>\n

<\/center> <\/p>\n

Referensi :<\/h3>\n

Pratt VM, Cavallari LH, Del Tredici AL, Gaedigk A, Hachad H, Ji Y, Kalman LV, Ly RC, Moyer AM, Scott SA, van Schaik RHN, Whirl-Carrillo M, Weck KE. Recommendations for Clinical CYP2D6 Genotyping Allele Selection: A Joint Consensus Recommendation of the Association for Molecular Pathology, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, and the European Society for Pharmacogenomics and Personalized Therapy. J Mol Diagn. 2021 Sep;23(9):1047-1064.<\/p>\n

 <\/p>\n

Baca Juga :<\/strong>\u00a0Fenomena Stunting : Pendekatan Scientific dan Solusi Deteksi Dini Defisiensi Mikronutrien dengan Q-Plex Multiplex Immunoassay<\/a><\/p>\n

 <\/p>\n

Penulis : Swara Yudhasasmita, M.Si.
\nEditor : Agung Nurfaizal<\/p>\n

 <\/p>\n

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Gen\u00a0CYP2D6\u00a0(\u00a0Cytochrome P450 family 2 subfamily D member 6\u00a0) adalah salah satu enzim yang diproduksi di liver dan berperan penting dalam metabolisme obat (farmakogenomik) seperti\u00a0antidepresan, antipsikotik, analgesik dan obat antikanker.\u00a0Variasi genetik pada CYP2D6 dapat memengaruhi aktivitas enzim, sehingga beberapa orang memiliki enzim yang berfungsi normal, kurang aktif, atau bahkan tidak aktif sama sekali. Terdapat lebih dari […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[495],"tags":[],"class_list":["post-3804","post","type-post","status-publish","format-standard","hentry","category-495"],"yoast_head":"\nDeteksi Genotipe dan CNV CYP2D6 Sekaligus dengan PCR-MALDI-TOF (MassARRAY) - Sciencewerke<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/pm11.corsivalab.xyz\/sciencewerke.indo\/deteksi-genotipe-dan-cnv-cyp2d6-sekaligus-dengan-pcr-maldi-tof-massarray\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Deteksi Genotipe dan CNV CYP2D6 Sekaligus dengan PCR-MALDI-TOF (MassARRAY) - Sciencewerke\" \/>\n<meta property=\"og:description\" content=\"Gen\u00a0CYP2D6\u00a0(\u00a0Cytochrome P450 family 2 subfamily D member 6\u00a0) adalah salah satu enzim yang diproduksi di liver dan berperan penting dalam metabolisme obat (farmakogenomik) seperti\u00a0antidepresan, antipsikotik, analgesik dan obat antikanker.\u00a0Variasi genetik pada CYP2D6 dapat memengaruhi aktivitas enzim, sehingga beberapa orang memiliki enzim yang berfungsi normal, kurang aktif, atau bahkan tidak aktif sama sekali. 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