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DETEKSI MUTASI LANGKA, DELESI 619 BP, PADA GEN BETA-GLOBIN DARI ETNIS MELAYU MAHASISWA FAKULTAS KEDOKTERAN UNIVERSITAS YARSI Kenconoviyati, Kenconoviyati; Prayuni, Kinasih; Susilowati, RW; Yuliwulandari, Rika; Salam M. Sofro, Abdul
Jurnal Kedokteran YARSI Vol 23, No 2 (2015): MEI - AGUSTUS 2015
Publisher : Lembaga Penelitian Universitas YARSI

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (220.228 KB) | DOI: 10.33476/jky.v23i2.98

Abstract

Beta-thalassemia merupakan gangguan hematologis autosomal yang secara genetis mengakibatkan berkurangnya sintesis beta-globin di hemoglobin. Beta-talasemia sebagian besar disebabkan oleh mutasi titik, insersi atau delesi dalam gen beta-globin yang terletak pada lengan pendek kromosom 11. Organisasi Kesehatan Dunia (WHO) memperkirakan terdapat sekitar 1,5% dari populasi global (80-90 juta orang) adalah pembawa ?-thalassemia. Tidak ada studi komprehensif untuk mendeteksi pembawa beta-thalassemia di Indonesia, terutama untuk mutasi delesi 619 bp, yang mencakup ekson 3 dan memiliki prevalensi yang tinggi. Kami menggunakan metode gap-PCR yang di-kombinasikan dengan metode elektroforesis gel untuk memper-kirakan adanya mutasi delesi 619 bp pada 48 siswa Fakultas Kedokteran Universitas YARSI dengan etnis Melayu. Analisis Blast hasil sekuensing dari ketiga sampel menunjukkan bahwa terdapat similaritas 98% antara hasil amplifikasi dengan ke daerah gen beta-globin pada kromosom 11 (No. Aksesi U01317.1). Berdasarkan hasil visualisasi elektroforesis gel, semua produk PCR dari 48 sampel, menunjukkan bahwa semua sampel tidak membawa mutasi delesi 619 bp yang ditunjukkan dengan ukuran produk PCR yang sama dari semua sampel, yaitu berukuran 1.457 bp dan 2.291 bp dari PCR I dan 1.212 bp dari PCR II.Beta-thalassaemia is an autosomal haematological disorder resulting in a genetically deficient synthesis of the ?-globin chain in haemoglobin. It is mostly caused by point mutations, a small deletions or insertions within the beta-globin gene which is located as a cluster on the short arm of chromosome 11. The World Health Organization has estimated that about 1.5% of the global population (80 to 90 million people) were carriers of ?-thalassemia. There are no comprehensive study to detect carrier of ?-thalassemia in Indonesia especially for 619 bp deletion mutation, which encompasses exon 3, that has greater prevalence. We used gap-PCR combined with gel electrophoresis methods to roughly screen the presence of major indel mutation in 48 Medical Faculty, Universitas YARSI students with Malay ethnic. To validate whether the PCR product obtained is the beta-globin gene, a direct sequencing of 3 PCR products were performed. The Blast analysis of the sequence was also done using NCBI database. The result showed that the PCR products obtained in this study showed 98% identity to human beta-globin gene region on chromosome 11 (No. Acc. U01317.1). In the electrophoresis of all PCR products of 48 samples, the result showed that all the samples did not carry any major indel mutation showing by the presence of similar length of PCR products in gel electrophoresis, which has 1.457 bp and 2.291 bp product from PCR I and 1.212 bp product from PCR II. 
Pengembangan Metode In-House HLA-Typing Gen HLA Kelas I (HLA A, HLA B, dan HLA C) Menggunakan Next Generation Sequencing Illumina MiSeq Yuliwulandari, Rika; Prayuni, Kinasih; Kenconoviyati, Kenconoviyati; Susilowati, R. W.; M. Sofro, Abdul Salam
Majalah Kedokteran Bandung Vol 47, No 3 (2015)
Publisher : Faculty of Medicine, Universitas Padjadjaran

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Abstract

Human leucocyte antigen (HLA) adalah protein penyaji antigen yang lokus genetiknya berada di kromosom 6p21 dengan ukuran sebesar 3,8 Mb dan berasosiasi dengan lebih dari 100 penyakit berbeda yang  kebanyakan merupakan penyakit autoimun. Proses HLA-typing menggunakan sekuensing Sanger masih memberikan ambiguitas terhadap determinasi alel, low-throughput, dan membutuhkan biaya besar untuk sampel dalam jumlah besar. Next generation sequencing (NGS) menjadi metode yang dapat mengatasi kelemahan sekuensing Sanger. MiSeq dari Illumina merupakan salah satu NGS yang digunakan untuk HLA-typing. MiSeq memberikan kemudahan preparasi dan fleksibilitas metode yang dapat dikembangkan sesuai dengan kebutuhan laboratorium penelitian. Penelitian dilakukan di Laboratorium Molekular Genetik, Laboratorium Terpadu Universitas YARSI pada empat orang mahasiswa Fakultas Kedokteran Universitas YARSI etnik Melayu selama periode Mei–Desember 2014. Hasil menunjukkan terdapat total 546 SNP heterozygous, 888 SNP homozygous, 25 insersi, dan 23 delesi dari keseluruhan 11 sampel amplikon dengan coverage 2.106,536x dengan 2x25 siklus pembacaan. Optimasi metode HLA-typing dapat dikatakan berhasil dengan mengombinasikan long-range PCR dan pemilihan ukuran library 300–600 bp. [MKB. 2015;47(3):152–159]Kata kunci: HLA Kelas I, MiSeq, next generation sequencingDevelopment of Class I HLA Gene In-House HLA-Typing Methods (HLA A, HLA B, and HLA C) using Next Generation Sequencing Illumina MiSeqAbstractHuman leukocyte antigen (HLA) is a 3.8 Mb protein presenting antigen whose genetic locus is located in chromosome 6p21 area and have association with more than 100 different diseases that are mostly autoimmune diseases. HLA-typing process using Sanger sequencing still  creates ambiguity in the  determination of  alleles, low-throughput, and costly as it requires a large quantity of sample. Next generation sequencing (NGS) is a method that can overcome the drawbacks of Sanger sequencing. MiSeq Illumina is one of the NGSs that are used for HLA-typing. This study was conducted at the Laboratory of Molecular, Universitas YARSI in a period from May to December 2014. MiSeq provides convenience and flexibility in the preparation methods that can be developed according to the needs of the research laboratory. The results showed that there were a total of 546 SNPs that were heterozygous, 888homozygous SNP, 25 insertions and 23 deletions from the overall 11 amplicon samples with an average coverage with 2x25 read length of  2,106,536x. Our protocol generates good result as we combined long PCR amplicon and size selection method to 300–600 bp fragment.  [MKB. 2015;47(3):152–159]Key words: HLA Class I, MiSeq, next generation sequencing DOI: 10.15395/mkb.v47n3.389
The Use of High Resolution Melting (HRM) Method to Detect rs1800629 of Tumor Necrosis Factor-alpha (TNF-alpha) Gene among Tuberculosis Patients Kinasih Prayuni; Intan Razari; Silviatun Nihayah; Rika Yuliwulandari
Medical Laboratory Technology Journal Vol. 7 No. 1 (2021): June
Publisher : Poltekkes Kemenkes Banjarmasin Jurusan Analis Kesehatan

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (439.767 KB) | DOI: 10.31964/mltj.v7i1.362

Abstract

The rs1800629 polymorphism plays a crucial role in the pathogenesis of infectious and autoimmune diseases. Meanwhile, tuberculosis (TB) remains a health primary infectious disease in Indonesia. The purpose of this study is to evaluate the HRM method in detecting the rs1800629 genotype, in the TNF-α gene’s promoter region, within TB patients. The benefit of this study is to accelerate the detection of rs1800629 with a simple, rapid, and cost-effective method for genotyping and mutation screening that does not include the use of a fluorescent probe. In this experimental study, the rs1800629 genotyped in a total of 25 tuberculosis patients using KAPA HRM kit in MyGo Mini PCR, and all amplified PCR products subsequently dispatched for direct DNA sequencing to Macrogen Inc, South Korea. Based on the results, a 100% concordance find in the genotyping of rs1800629 between HRM and sequencing. The authors provided evidence to use HRM in detecting rs1800629 within the TNF-α promotor region. This application as a genotyping assay in tuberculosis patients is a low-cost, rapid, and accurate detection. However, further studies using the HRM method in case-control samples of tuberculosis are required to evaluate the method’s effectiveness and to obtain more information regarding the genotype’s susceptibility to tuberculosis and its adverse effect treatment, including anti-tuberculosis drug, induced liver injury (AT-DILI), and multidrug-resistant TB (MDR-TB), within the Indonesian population.
Hubungan Antara Profil Dermatoglifi Mahasiswa Penderita Asma Dengan Indeks Prestasi Mahasiswa (IPK) Yenni Zulhamidah; Kencono Viyati; Kinasih Prayuni; Etty Widayanti; Endang Purwaningsih; Restu Samsul Hadi; Mirfat Mirfat
Jurnal Kesehatan Vol 9 No 2 (2021): Agustus
Publisher : Politeknik Negeri Jember

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.25047/jkes.v9i2.208

Abstract

Asthma is a respiratory disease caused by narrowing of the bronchial tubes, causingshortness of breath. Asthma is a multi-factorial disorder resulting from a combination ofgenetic and environmental factors. Asthma impact on productivity because most of patientsexperiencing symptoms that affect their daily lives. Dermatoglyphs, patterns of skin ridges,are derived from the hypodermal neural system and formed embryologically between the10th and 17th weeks. Student productivity can be measured by the Grade Point Average(GPA). In this study we determine the dermatoglyphic profile and the relationship betweenasthma and student’s GPA. Dermatoglyphic prints were obtained from both hands of 57students with asthma and 28 students without asthma. The frequency of GPA and fingerpatters calculated directly using Excel sheet. The association of GPA, student finger patternsand asthma calculated using Chi-Square. The results showed that the distribution of fingerpatterns among students with asthma is 38% whorl, 4% arch and 59% loop, whereas thefinger patterns among students without asthma is 32% whorl, 7% arch and 61% loop. Thesedata show that the finger pattern of the most asthmatic students is whorl compared tostudents without asthma. There are no significant association between the finger patternswith asthma. Students with asthma is relatively lower in GPA (<3) than students withoutasthma. Further analysis showed that students with lower GPA (< 3) significantly associatedwith asthma. Based on present study, it showed that the student productivity is low in studentwith asthma than student without asthma. However, there are no significant differentbetween GPA of students with asthma and students without asthma. Moreover, our findingscannot be generalized as our study had a small sample size. Hence, more elaborate studieswith larger samples with student’s relatives data worth to be done to get conclusive answerson whether dermatoglyphics can be used to predict productivity of student with asthma basedon their GPA.
HLA-DQB1*05:02 Allele Association with Anti-Tuberculosis Drug Induced Liver Injury: A Single-Hospital Based Study in Jakarta, Indonesia Kinasih Prayuni; Hilyatuz Zahroh; Syafrizal Syafrizal; Rika Yuliwulandari
Medical Laboratory Technology Journal Vol. 9 No. 2 (2023): December
Publisher : Poltekkes Kemenkes Banjarmasin Jurusan Analis Kesehatan

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.31964/mltj.v9i2.547

Abstract

Past studies have delved into the genetic factors underlying anti-tuberculosis drug-induced liver injury (AT-DILI), primarily concentrating on polymorphisms in genes responsible for drug-metabolizing enzymes. However, the immune system's potential impact on drug adverse effects, specifically through genes such as HLA, has received limited attention. Previous research has notably revealed an association between HLA-DQB1*05 and AT-DILI, specifically the prevalence of the HLA-DQB*05:02 allele in AT-DILI patients. In light of this, our study aimed to investigate a potential link between HLA-DQB1*05:02 alleles and AT-DILI. In this study, we included 51 AT-DILI cases and 59 controls belonging to the Javanese ethnic group. The HLA-DQB1*05:02 genotypes were determined using a customized PCR-based typing method, and the results were further confirmed by analyzing five samples via the Luminex assay. Our findings revealed a significant association between HLA-DQA1*05: 02 and the risk of AT-DILI (P = 0.022; OR (95% CI) = 6.11 (1.25-29.74)). Moreover, the consistent results obtained from the Luminex assay validated the reliability of the custom PCR-based genotyping approach. This preliminary study sheds light on the relationship between the HLA-DQB1*05:02 allele and AT-DILI within the Indonesian population. Furthermore, our study demonstrates the dependability of custom PCR-based genotyping in detecting HLA-DQB1*05:02 alleles. Nevertheless, further research is imperative to corroborate and expand upon our findings.
Association between rs2787094 Genetic Variants in ADAM33 Gene and Asthma in Indonesian Population: Preliminary study Viyati, Kencono; Prayuni, Kinasih; Zulhamidah, Yenni; Razari, Intan; Yuliwulandari, Rika
Makara Journal of Health Research Vol. 27, No. 2
Publisher : UI Scholars Hub

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Abstract

Background: Asthma is a multifactorial disease that encompasses a multitude of genetic and environmental factors. One such factor is the disintegrin and metalloprotein-33 (ADAM33) gene, which is correlated with asthma and bronchial hyperresponsiveness. Previous studies conducted on Asian populations have reported a significant association between rs2787094 polymorphism in the ADAM33 gene and asthma. Methods: Our study involved 153 Indonesian participants. TaqMan genotyping assay was used to analyze rs2787094 polymorphism in the ADAM33 gene. Results: No significant association was detected between the allele and genotype frequencies of rs2787094 and asthma in the case and control subjects (p = 1.00). The distribution of rs2787094 genotypes in healthy controls was CC (12.1%), CG (42.1%), and GG (45.8%). The genotype distribution in Indonesians was similar to East Asians in 1,000 genomes dataset. Conclusions: This is the first study to investigate the association between rs2787094 polymorphism in the ADAM33 gene and asthma in the Indonesian population and concluded that it is not associated. Future studies with larger sample sizes and more single nucleotide polymorphisms in the ADAM33 gene are needed to validate these results.
Detection of ADAM33 Gene Variants Using Sanger Sequencing Suwardji, Kencono Viyati; Prayuni, Kinasih; Andayani, Sri Hastuti; Zulhamidah, Yenni; Sofwan, Achmad; Muflihah, Lilah; Yunus, Ronike; Junaefi, Junaefi; Judasah, Ijun
Majalah Sainstekes Vol. 10 No. 2 (2023): DESEMBER 2023
Publisher : Lembaga Penelitian Universitas YARSI

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.33476/ms.v10i2.3962

Abstract

Asma adalah penyakit pernafasan yang ditandai oleh obstruksi saluran napas yang disebabkan oleh peradangan bronkus akut dan kronis. Gen disintegrin and metalloprotease 33 (ADAM33) merupakan gen terkait kerentanan terhadap asma dan diketahui memiliki lebih dari 300 polimorfisme. Studi meta-analisis melaporkan bahwa rs2280091, rs2787094, rs511898, rs2280089 dan rs2280090 memiliki asosiasi kuat dengan asma pada populasi Asia. Penelitian pendahuluan ini mengumpulkan 10 partisipan dengan penyakit asma dan 10 partisipan sehat untuk mengidentifikasi alel dan genotipe dari masing-masing polimorfisme menggunakan metode amplifikasi dan sekuensing Sanger. Hasil sekuensing menunjukkan bahwa 60% dari sampel yang diuji memiliki genotipe heterozigot untuk rs2280090 dan rs228091 baik pada sampel kasus maupun kontrol. Varian SNP rs2280096 menunjukkan bahwa frekuensi alel homozigot wildtype sebesar 60% baik pada sampel kasus maupun kontrol. Penelitian lanjutan perlu dilakukan untuk mengetahui apakah varian SNP tersebut memiliki aosisasi yang positif dengan penyakit asma.
THE RISK FACTORS FOR DRUG INDUCED HEPATITIS IN PULMONARY TUBERCULOSIS PATIENTS IN DR. SOETOMO HOSPITAL Soedarsono, Soedarsono; Mandayani, Sari; Prayuni, Kinasih; Yuliwulandari, Rika
Indonesian Journal of Tropical and Infectious Disease Vol. 7 No. 3 (2018)
Publisher : Institute of Topical Disease Universitas Airlangga

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (457.097 KB) | DOI: 10.20473/ijtid.v7i3.8689

Abstract

Tuberculosis (TB) is still a major public health problem in Indonesia. Anti-tuberculosis drug-induced hepatotoxicity (DIH) is common side effect leading to changes in treatment regimens, and the less effective second-line treatments. Several risk factors such as age, sex, body mass index (BMI) and acetylization status for hepatotoxicity were suggested in previous studies but in the fact, those are often not related to DIH incidence after receiving standard TB treatment regimen. The aim of this study was to asses the role of risk factors in the DIH incidence in pulmonary TB patients receiving standard TB treatment regimen in Dr. Soetomo Hospital, Surabaya. Study design was analytic observational with case control. The subjects were 30 TB DIH patients and 31 TB non-DIH patients receiving standard national TB program therapy. DIH severity was divided based on International DIH Expert Working Group. Demographic data and BMI status were taken from medical records. The age classification are ≥35 years old and <35 years old as one of the risk factors studied. DNA sequencing was used to assess single-nucleotide polymorphisms in NAT2 coding region to evaluate acetylator status from blood samples. The risk factors were evaluated using chi-square test and Mantel-Haenszel test. Significant association between low BMI and DIH in general was identified (OR=3.017; 95% CI=1.029-8.845) and more significant association between low BMI and moderate DIH (OR=15.833; 95% CI=1.792-139.922). Age, sex, and acetylization status has no significant correlation with DIH incidence in general. Significant association between slow acetylator phenotype and incidence of moderate DIH was identified (OR=7.125; 95% CI= 1.309-38.711). In conclusion, some risk factors were correlated to DIH incidence in pulmonary TB patientsreceiving standart TB treatment regimen.
Pengembangan Metode PCR Multipleks untuk Analisis Genotipe Null Gen GSTM1/GSTT1 pada Pasien Tuberkulosis Prayuni, Kinasih; Razari, Intan; Nihayah, Silviatun; Syafrizal; Yuliwulandari, Rika
ARTERI : Jurnal Ilmu Kesehatan Vol 4 No 4 (2023): Agustus
Publisher : Puslitbang Sinergis Asa Professional

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37148/arteri.v4i4.289

Abstract

Tuberculosis (TB) remains Indonesia's leading infectious disease. Hepatotoxicity is the most common side effect of TB first-line medication therapy in TB patients. GSTM1 and GSTT1 are glutathione S-transferase (GST) genes involved in the detoxification of various toxic compounds such as drugs. The development of fast and simple methods for null genotyping of GSTM1/GSTT1 could facilitate large pharmacogenetic studies and the clinical application of personalized drug dose adjustment according to the patient's genetic profile. The aim of this research was to develop a multiple PCR method for simultaneous amplification of GSTM1/GSTT1 genes for molecular analysis. A total of 25 samples of TB patients were used to validate the method consisting of TB patients with hepatotoxicity and without hepatotoxicity. Our result showed the genotype frequency of the GSTM1 null genotype was 90% in TB patients with hepatotoxicity and 100% in TB patients without hepatotoxicity. The frequency of the GSTT1 null genotype in TB patients with hepatotoxicity was 90%, whereas in TB patients without hepatotoxicity was 80%. The sequencing results on the positive samples showed a similarity of 99% to the GenBank NCBI. Our study was successful in detecting GSTM1 and GSTT1 null genotypes using the multiplex PCR method in TB patients. Further study needs to be done with larger sample of TB patients.