Ditemukan 2 dokumen yang sesuai dengan query
Putri Keumala Alisha
"Metilasi DNA merupakan perubahan epigenetik yang umum terjadi sebagai penyebab inaktivasi gen pada tumor suppressor genes (TSGs). Metilasi pada promoter TSG memiliki asosiasi dengan pembentukan kanker tiroid. Metode methylation-specific multiplex ligation dependent-probe amplification (MS-MLPA) merupakan salah satu metode berbasis PCR yang dapat melakukan identifikasi metilasi pada beberapa gen dan analisis copy number variant secara simultan. Tujuan dari penelitian ini adalah untuk mengoptimasi metode MS-MLPA dan mengidentifikasi metilasi TSG pada kanker tiroid dengan metode MS-MLPA. Sebanyak 40 sampel fine needle aspiration biopsy (FNAB) dikumpulkan secara retrospektif di Rumah Sakit Kanker Dharmais. Sampel FNAB berasal dari pasien yang memiliki kelainan nodul tiroid. Metilasi TSG dianalisis dengan metode MS-MLPA menggunakan probemix Tumour Suppressor Mix 1 ME001-C2 (MRC-Holland). Sampel FNAB dibandingkan dengan reference sample berupa sampel darah yang berasal dari individu sehat. Penelitian ini berhasil mengoptimasi metode MS-MLPA dan mendeteksi metilasi pada 4 jenis tumor suppressor genes, yaitu gen RASSF1A, gen CASP8, gen FHIT, dan gen CHFR. Hasil identifikasi menunjukkan bahwa terdapat 20 sampel tumor ganas dan 2 sampel tumor jinak mengalami metilasi.
DNA methylation is a common epigenetic change that causes gene inactivation in tumor suppressor genes (TSGs). TSGpromoter methylation has an association with the formation of thyroid cancer. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) is a PCR-based method that can identify methylation in several genes and copy number variant simultaneously. The aim of this study is to optimize methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and to identify tumor suppressor genes methylation of thyroid cancer using MS-MLPA. Retrospectively 40 Fine Needle Aspiration Biopsy samples were collected in Dharmais Cancer Hospital. FNAB samples were collected from patients with thyroid nodules abnormalities. Tumor suppressor genes methylation were analyzed using Tumour Suppressor Mix 1 ME001-C2 probemix (MRC-Holland) as MS-MLPA reagents. FNAB samples were compared with reference sample from blood that were collected from healthy people. This study has successfully optimizing MS-MLPA method and detecting 4 methylated tumor suppressor genes, RASSF1A, CAPS8, FHIT and CHFR. Methylation identification shows 20 malignant histopathology samples and 2 benign histopathology samples were methylated. "
Depok: Fakultas Matematika dan Ilmu Pengetahuan Alam Universitas Indonesia, 2019
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Henny Fitria
"Metilasi DNA merupakan salah satu penyebab umum inaktivasi Mismatch Repair Gene (MMR). Gen MMR memperbaiki kesalahan penyisipan/penghapusan basa nukleotida pada proses sintesis DNA. Metilasi pada promoter gen MMR memiliki asosiasi dengan pembentukan kanker kolon, sehingga metilasi tersebut perlu diidentifikasi. Identifikasi gen MMR dapat dilakukan menggunakan teknik methylation-specific multiplex ligation-dependent probe amplification amplification (MS-MLPA). Prinsip dari teknik MS-MLPA yaitu amplifikasi probe yang menempel pada sekuens termetilasi. Tujuan dari penelitian ini yaitu untuk mengoptimasi teknik MS-MLPA dan mengidentifikasi metilasi gen MMR pada kanker kolon dengan teknik MS-MLPA. Penelitian ini menggunakan 27 sampel jaringan frozen kanker kolon yang telah tersedia di Biobank Rumah Sakit Kanker Dharmais (RSKD). Sampel tersebut dianalisis menggunakan probemix Mismatch Repair Gene [ME011-C1][C1-0518] yang telah didesain khusus untuk mendeteksi pada beberapa gen MMR yakni MLH1, PMS2, MSH6, dan MSH2. Hasil penelitian menunjukkan optimasi teknik MS-MLPA telah berhasil dilakukan, sehingga identifikasi metilasi pada gen MMR telah berhasil diperoleh pada 4 sampel pasien. Gen MMR tersebut yakni MLH1 dan MSH6, dengan persentase masing-masing 75% dan 25%.
DNA methylation is one of the most common causes of mismatch repair gene (MMR) inactivation. The MMR gene corrects errors in the insertion/deletion of nucleotide bases in the DNA synthesis process. MMR gene promoter methylation has an association with the formation of colon cancer, so the methylation needs to be identified. Identification of the MMR gene can be done using the methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) technique. The principle of the MS-MLPA technique is the amplification of the probe attached to the methylated sequence. The purpose of this study was to optimize the MS-MLPA technique and identify MMR gene methylation in colon cancer using the MS-MLPA technique. This study used 27 samples of frozen colon cancer tissue that were available at the Dharmais Cancer Hospital Biobank (RSKD). The samples were analyzed using the Mismatch Repair Gene probemix [ME011-C1][C1-0518] which has been specially designed to detect several MMR genes, namely MLH1, PMS2, MSH6, and MSH2. The results show that the optimization of the MS-MLPA technique has been successfully carried out, so that the identification of methylation in the MMR gene has been successfully obtained in 4 patient samples. The MMR genes are MLH1 and MSH6, with a percentage of 75% and 25%, respectively. analyzed using probemix Mismatch Repair Gene [ME011-C1][C1-0518] which has been specifically designed to detect several MMR genes namely MLH1, PMS2,MSH6, and MSH2. The results showed that the optimization of the MS-MLPA technique was successful, so that identification of the methylation in the MMR gene was successfully obtained in 4 patient samples. The MMR genes are MLH1 and MSH6, with percentages of 75% and 25% respectively."
Depok: Fakultas Matematika dan Ilmu Pengetahuan Alam Universitas Indonesia, 2020
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