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ROLE OF BREAK CLUSTER REGION (BCR) - ABELSON MURINE LEUKIMIA (ABL) EXAMINATION IN CHRONIC MYELOGENOUS LEUKEMIA (CML) Sosiawan, Agung
Indonesian Journal of Tropical and Infectious Disease Vol 5, No 2 (2014)
Publisher : Institute of Topical Disease

Show Abstract | Download Original | Original Source | Check in Google Scholar

Abstract

Chronic myelogenous leukemia (CML) is a clonal bone marrow stem cell disorder associated with a characteristic chromosomal translocation called the Philadelphia chromosome which caused a proliferation of mature granulocytes (neutrophils, eosinophils and basophils) and their precursors, increasing unregulated growth of predominantly myeloid cells in the bone marrow and its accumulation in the blood. As myeloproliferative disease, Chronic Myelogenous Leukemia or CML is a malignancy of the sixth-highest, reaching 15% of all blood malignancies in adults with an incidence of 1.1 per 100,000 population (Ugroseno, 2012). The CML diagnosis is made based on a presence of Philadelphia chromosome due to the existence of a reciprocal translocation of chromosomes 9 and chromosome 22 t (9.22), and raises the fusion of Break Cluster Region (BCR) gene of chromosome 22 on band q11 by Abelson Murine Leukemia (ABL). The fused BCR-ABL gene has BCR sequences of different length, so it produces a protein that has a different molecular weight. Despite having different length of BCR sequences, however, the length of fuses ABL gene sequence is constant. Associated with this different BCR sequence length are the three variations of the BCR-ABL gene fusion. The first variation is a Major Break Cluster (M-BCR), the BCR gene break is found in exon 2 in e13-E14 region. This type of CML is the fusion of BCR exon b2 or b3 to ABL exon a2, forming two major transcripts of the b2a2 or b3a2, which has a protein product with 210 kD weight or referred to as p210. The second variation is Minor BCR (m-BCR), which has e1a2 fusion. CML with BCR-ABL gene fusion of this type has a protein product with a molecular weight of 190 kDa or called p190. The third variation is micro-BCR (m-BCR), with BCR gene break between exons E19 and e20b that form mRNA transcripts e19a2, with BCR-ABL protein P230. This fused gene can be detected with qualitative multiplex PCR.
Identification of Single Nucleotide Polymorphism on Bone Morphogenetic Protein 2 Gene in Non-Syndromic Cleft Lip/ Palate Patient Mala Kurniati; RM Coen Pramono D; Agung Sosiawan; David Sontani Perdanakusuma; Hari Basuki Notobroto; Andra Rizqiawan
Indian Journal of Forensic Medicine & Toxicology Vol. 15 No. 4 (2021): Indian Journal of Forensic Medicine & Toxicology
Publisher : Institute of Medico-legal Publications Pvt Ltd

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37506/ijfmt.v15i4.16954

Abstract

Cleft lip/palate (CL/P) is one of the most common birth defects in humans. Haploinsufficiency in genesBone Morphogenetic Protein (BMP) 2 is thought to play an important role in the incidence of CL/P. Thisstudy aimed to identify changes in the nucleotide (Single Nucleotide Polymorphism/SNP) BMP 2 rs235768A>T gene in CL/P patient in Indonesia. Seventy samples of DNA that were successfully amplified andrestricted consisted of patient and control samples with the three of which were used for sequencing. Basedon the analysis using restriction enzymes and Finch TV and Bioedit software programs, this study identifieda change from nucleotide A to nucleotide T which is a mutation missense (Serine-Arginine/TCA-TCT).Based on the results of the Fisher’s exact test, there was difference in genotype frequency between the CL/Pgroup and the control. Meanwhile, there was no difference in allele frequencies between the two groups. Theallele frequency T has a higher value than the frequency of the allele A.
The Genetic Aspect of Non-Syndromic Cleft Lip and Palate towards Candidate Genes in the Etiology : A literature Review Mala Kurniati; RM Coen Pramono D; Agung Sosiawan; Ni Wayan Tirtaningsih
Indian Journal of Forensic Medicine & Toxicology Vol. 15 No. 2 (2021): Indian Journal of Forensic Medicine & Toxicology
Publisher : Institute of Medico-legal Publications Pvt Ltd

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37506/ijfmt.v15i2.14935

Abstract

Cleft lip and cleft palate (CL/P) is a cleft lip deformity indicated by an opening or an uncommon cleft inthe lip or roof of the mouth (palate). The differences in ethnicity, gender, and the correlation with geneticfactors influence the prevalence of Non-syndromic CL/P. This study was conducted through a literaturereview on genes that were allegedly associated with Non-syndromic CL/P. Genetics play a role, to a greateror lesser extent, in all diseases. Besides, palatogenesis involves many diverse genes in a complex process.In this case, oral cleft phenotypes develop when this process is disrupted in some manner because of genedysfunction. Various genetic approaches, including genome-wide and candidate gene association studiesas well as linkage analysis, have been undertaken to identify etiologic factors, but results have often beeninconclusive or contradictory. Therefore, it concludes that the genetic basis of CL/P is still controversialbecause of the genetic complexity of clefting
The Genetic Aspect of Non-Syndromic Cleft Lip and Palate towards Candidate Genes in the Etiology : A literature Review Mala Kurniati; RM Coen Pramono D; Agung Sosiawan; Ni Wayan Tirtaningsih
Indian Journal of Forensic Medicine & Toxicology Vol. 15 No. 3 (2021): Indian Journal of Forensic Medicine & Toxicology
Publisher : Institute of Medico-legal Publications Pvt Ltd

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.37506/ijfmt.v15i3.15859

Abstract

Cleft lip and cleft palate (CL/P) is a cleft lip deformity indicated by an opening or an uncommon cleft in the lip or roof of the mouth (palate). The differences in ethnicity, gender, and the correlation with genetic factors influence the prevalence of Non-syndromic CL/P. This study was conducted through a literature review on genes that were allegedly associated with Non-syndromic CL/P. Genetics play a role, to a greater or lesser extent, in all diseases. Besides, palatogenesis involves many diverse genes in a complex process. In this case, oral cleft phenotypes develop when this process is disrupted in some manner because of gene dysfunction. Various genetic approaches, including genome-wide and candidate gene association studies as well as linkage analysis, have been undertaken to identify etiologic factors, but results have often been inconclusive or contradictory. Therefore, it concludes that the genetic basis of CL/P is still controversial because of the genetic complexity of clefting.
Analisis heteroplasmy DNA mitokondria pulpa gigi pada identifikasi personal forensik (Heteroplasmy analysis of dental pulp mitochondrial DNA in forensic personal identification) Ardyni Febri K; Retno Pudji Rahayu; Agung Sosiawan
Dental Journal (Majalah Kedokteran Gigi) Vol. 46 No. 3 (2013): September 2013
Publisher : Faculty of Dental Medicine, Universitas Airlangga https://fkg.unair.ac.id/en

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (419.813 KB) | DOI: 10.20473/j.djmkg.v46.i3.p130-134

Abstract

Background: Mitochondrial DNA (mtDNA) sequence analysis of the hypervariable control region has been shown to be an effective tool for personal identification. The high copy and maternal mode of inheritance make mtDNA analysis particularly useful when old samples or degradation of biological samples prohibits the detection of nuclear DNA analysis. Dental pulp is covered with hard tissue such as dentin and enamel. It is highly capable of protecting the DNA and thus is extremely useful. One of the diasadvantages of mitochondrial DNA is heteroplasmy. Heteroplasmy is the presence of a mixture of more than one type of an organellar genome within a cell or individual. It can lead to ambiguity in forensic personal identification. Due to that, the evidence of heteroplasmy in dental pulp is needed. Purpose: The study was aimed to determine the heteroplasmy occurance of mitocondrial DNA in dental pulp. Methods: Blood and teeth samples were taken from 6 persons, each samples was extracted with DNAzol. DNA samples were amplified with PCR and sequencing to analyze the nucleotide sequences polymorphism of the hypervariable region 1 in mtDNA and compared with revised Cambridge Reference Sequence (rCRS). results: The dental pulp and blood nucleotide sequence of hypervariable region 1 mitochondrial DNA showed polymorphism when compared with rCRS and heteroplasmy when compared between dental pulp with blood. Conclusion: The study showed that heteroplasmy was found in mithocondrial DNA from dental pulp.latar belakang: Analisis sekuens DNA mitokondria (mtDNA) regio kontrol hypervariable telah terbukti menjadi alat efektif untuk identifikasi personal. Kopi DNA yang banyak dan pewarisan maternal membuat analisis mtDNA sangat berguna ketika sampel lama atau sampel biologis yang terdegradasi menghambat deteksi analisis DNA inti. Pulpa gigi terlindung jaringan keras seperti dentin dan enamel. Hal ini membuat pulpa mampu melindungi DNA dan dengan demikian sangat berguna untuk identifikasi. Salah satu kekurangan DNA mitokondria adalah heteroplasmy. Heteroplasmy adalah adanya campuran lebih dari satu jenis genom dalam sel atau individua. Hal ini dapat menyebabkan ambiguitas pada identifikasi pribadi forensik. Oleh sebab itu, identifikasi personal menggunakan pulpa gigi harus memperhatikan kejadian heteroplasmy. tujuan: Penelitian ini bertujuan untuk meneliti kejadian heteroplamy DNA mitokondria pada pulpa gigi. Metode: Sampel darah dan gigi diambil dari 6 orang, masing-masing sampel diekstraksi dengan metode DNAzol. Sampel DNA diamplifikasi dengan PCR dan sequencing untuk menganalisis polimorfisme urutan nukleotida di hypervariable region 1 mtDNA dan dibandingkan dengan revised Cambridge Reference Sequence (rCRS). hasil: Sekuens nukleotida pulpa gigi dan darah daerah pada hypervariable region 1 DNA mitokondria menunjukkan polimorfisme bila dibandingkan dengan rCRS dan heteroplasmy bila dibandingkan antara pulpa gigi dengan darah. Simpulan: Penelitian ini menunjukkan bahwa heteroplasmy dapat ditemukan pada DNA mitokrondia pulpa gigi.
Identifikasi bite marks dengan ekstraksi DNA metode Chelex (Bite marks identification with Chelex methods in DNA extraction) Imelda Kristina Sutrisno; Ira Arundina; Agung Sosiawan
Dental Journal (Majalah Kedokteran Gigi) Vol. 46 No. 2 (2013): June 2013
Publisher : Faculty of Dental Medicine, Universitas Airlangga https://fkg.unair.ac.id/en

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (460.296 KB) | DOI: 10.20473/j.djmkg.v46.i2.p107-112

Abstract

Background: In the case of crime often encountered evidence in bite marks form that was found on the victim’s body. Generally, bitemarks identification use standard techniques that compare the interpretation picture with the tooth model of suspected person. However, sometimes the techniques do not obtain accurate results. Therefore another technique is needed to support the identification process,such as DNA analysis that use the remaining epithelium attached in saliva to identify the DNA of the suspected person. In this processes a limited DNA material could be met, not only less in quantity but also less in quality. Chelex known as one of an effective DNA extraction method in DNA forensic case is needed to overcome this problem. Purpose: The study was aimed to examine the use of Chelex as DNA extraction method on a bitemarks sample models. Methods: The blood and bitemarks of 5 persons with were taken. The DNA of each subject was exctracted with Chelex and quantified the quantity with UV Spechtrophotometer. The DNA results was amplified by PCR at locus vWA and TH01 then vizualised by electrophoresis. Results: The electrophoresis’s results showed band at locus vWA and TH01 for blood sample and bite marks with no significant differences. Conclusion: The study showed that Chelex method could be use to extract DNA from bitemarks.Latar belakang: Dalam kasus kejahatan sering dijumpai bukti dalam bentuk bekas gigitan (bitemarks) yang ditemukan pada tubuh korban. Umumnya, untuk mengidentifikasi bite marks menggunakan teknik standar yaitu membandingkan foto interpretasi dengan model gigi dari orang yang dicurigai. Namun demikian teknik ini terkadang tidak mendapatkan hasil yang akurat, sehingga diperlukan teknik lain untuk menunjang keberhasilan proses identifikasi pelaku, yakni melalui analisis DNA bitemarks, yang diperoleh dari saliva yang mengandung sisa epitel tersangka pelaku. Sampel DNA yang berasal dari bitemarks umumnya terbatas, tidak hanya terbatas dalam kuantitas tetapi juga terbatas dalam kualitas. Hal ini seringkali menimbulkan kesulitan tersendiri dalam proses analisisnya. Chelex yang dikenal sebagai salah satu metode ekstraksi yang efektif di bidang forensik, sangat diperlukan untuk mengatasi kendala tersebut . Tujuan: Penelitian ini bertujuan untuk meneliti penggunaan metode ekstraksi DNA metode Chelex pada sampel bite marks. Metode: Darah dan cetakan gigi dari 5 subjek diambil, dan DNA di ekstraks dengan Chelex dan kemudian diuji kuantitas dengan UV Spechtrophotometer. Setelah itu hasil diamplifikasi dengan PCR pada lokus vWA dan TH01 kemudian divisualisasi dengan elektroforesis. Hasil: Hasil elektroforesis menunjukkan adanya band pada lokus vWA dan TH01 untuk sampel darah dan cetakan gigi tanpa perbedaan yang signifikan secara statistika. Simpulan: Penelitian ini menunjukkan bahwa metode Chelex dapat digunakan untuk mengekstraksi DNA dari bite marks.
Effectiveness of Line communication application as a social media on changes in tooth brushing behavior of junior high school students in Banjarmasin Widodo Widodo; Darmawan Setijanto; Agung Sosiawan
Dental Journal (Majalah Kedokteran Gigi) Vol. 49 No. 4 (2016): December 2016
Publisher : Faculty of Dental Medicine, Universitas Airlangga https://fkg.unair.ac.id/en

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (241.596 KB) | DOI: 10.20473/j.djmkg.v49.i4.p223-228

Abstract

Background: There were only 10.7% of junior school students in Banjarmasin brushing their teeth before bedtime. Using Line (as one of the social media) can be assumed as an effective strategy to spread information. Purpose: This study aimed to reveal changes in tooth brushing behavior before bedtime in students of class VII in all state junior high schools in Banjarmasin after receiving information disseminated through Line. Method: Pre and post test technique with control group design was used in this research. Result: One week before the treatment, the mean frequency of tooth brushing behavior before bedtime in the Line group was 1.90, while in the poster group was 1.93. During the treatment, the mean frequency of tooth brushing behavior before bedtime in the Line group was 4.78 in the first 7 days, 5.07 in the second week, and 5.67 in the third week. On the other hand, the mean frequency of tooth brushing behavior before bedtime in the poster group was 4.66 in the first 7 days, 4.61 in the second week, and 5.18 in the third week. Conclusion: Messages/ information disseminated through both of Line and poster can give a significant change in tooth brushing behavior before bedtime. Nevertheless, Line can trigger better effectiveness than poster in stimulating a change in tooth brushing behavior before bedtime.
The role of family history as a risk factor for non-syndromic cleft lip and/or palate with multifactorial inheritance Agung Sosiawan; Mala Kurniati; Coen Pramono Danudiningrat; Dian Agustin Wahjuningrum; Indra Mulyawan
Dental Journal (Majalah Kedokteran Gigi) Vol. 54 No. 2 (2021): June 2021
Publisher : Faculty of Dental Medicine, Universitas Airlangga https://fkg.unair.ac.id/en

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.20473/j.djmkg.v54.i2.p108-112

Abstract

Background: Cleft lip with or without cleft palate (CL/P) is a facial growth ‘disorder that occurs during gestation and has multifactorial causes owing to both genetic and environmental factors. Several factors can increase the likelihood of CL/P, and one of them is family history. Differences in results obtained from studies conducted across several countries concerning family history as a risk factor for CL/P suggest there is no consensus on how the condition is inherited. Purpose: This study aims to review the literature on the role of family history as a risk factor contributing to the incidence of non-syndromic CL/P (NSCL/P). Review: This review discusses the etiology of CL/P and the risk factors influencing the incidence of CL/P. The review also examines the criteria for inheriting multifactorial disorders to calculate the risks involved should there be a recurrence of the condition based on family history. Conclusion: CL/P is a type of multifactorial disorder with unclear etiology. Therefore, it is important to investigate the risk factors stemming from family history (which play an important role) related to the recurrence risk. Additionally, there should be focus on increasing genetic education and offering counselling to parents and pregnant women.
CODIS STR LOCI (CSF1PO, THOI, TPOX, vWA) GENETIC VARIATION ANALYSIS IN MADURESE Ahmad Yudianto; Agung Sosiawan; Nola Margaret
Folia Medica Indonesiana Vol. 52 No. 1 (2016): JANUARY - MARCH 2016
Publisher : Faculty of Medicine, Universitas Airlangga

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (322.763 KB) | DOI: 10.20473/fmi.v52i1.5196

Abstract

Endogamy continues to occur among the Madurese people in rural areas of the island of Madura, especially those areas of the smallest islands around the mainland of Madura. Endogamy as seen from a genetic standpoint will increase the frequency of homozygote genotypes. With regard to genetic variations, STRs of nuclear DNA and polymorphisms in mtDNA are frequently examined. Genetic variations in human undergo an evolutionary process through the accumulation of changes in DNA sequence, i.e. through the process of nucleotide substitutions that evolves in number with the directional development of lineage. So far, the genetic variations among the populations in Madura Island have not been known. The present study was an observational analytical research with the purpose of determining the genetic variations in STR CODIS in the populations of Madura Island. Results indicated that, based on loci alelle: CSF1PO, THOI, TPOX, and vWA, there was homozygote genotypes. The allele variations is not specific for Madurese ethnic but this variations may represent married model in Madurese ethnic. According to Mustama (2007), a gene pool is not only a collection of genes but a dynamic system organized and containing the past history of a population. Any genetic information has certain historical, anthropological and statistical aspects necessitating an interdisciplinary coordination and collaboration.
ROLE OF BREAK CLUSTER REGION (BCR) - ABELSON MURINE LEUKIMIA (ABL) EXAMINATION IN CHRONIC MYELOGENOUS LEUKEMIA (CML) Agung Sosiawan
Indonesian Journal of Tropical and Infectious Disease Vol. 5 No. 2 (2014)
Publisher : Institute of Topical Disease Universitas Airlangga

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (455.464 KB) | DOI: 10.20473/ijtid.v5i2.224

Abstract

Chronic myelogenous leukemia (CML) is a clonal bone marrow stem cell disorder associated with a characteristic chromosomal translocation called the Philadelphia chromosome which caused a proliferation of mature granulocytes (neutrophils, eosinophils and basophils) and their precursors, increasing unregulated growth of predominantly myeloid cells in the bone marrow and its accumulation in the blood. As myeloproliferative disease, Chronic Myelogenous Leukemia or CML is a malignancy of the sixth-highest, reaching 15% of all blood malignancies in adults with an incidence of 1.1 per 100,000 population (Ugroseno, 2012). The CML diagnosis is made based on a presence of Philadelphia chromosome due to the existence of a reciprocal translocation of chromosomes 9 and chromosome 22 t (9.22), and raises the fusion of Break Cluster Region (BCR) gene of chromosome 22 on band q11 by Abelson Murine Leukemia (ABL). The fused BCR-ABL gene has BCR sequences of different length, so it produces a protein that has a different molecular weight. Despite having different length of BCR sequences, however, the length of fuses ABL gene sequence is constant. Associated with this different BCR sequence length are the three variations of the BCR-ABL gene fusion. The first variation is a Major Break Cluster (M-BCR), the BCR gene break is found in exon 2 in e13-E14 region. This type of CML is the fusion of BCR exon b2 or b3 to ABL exon a2, forming two major transcripts of the b2a2 or b3a2, which has a protein product with 210 kD weight or referred to as p210. The second variation is Minor BCR (m-BCR), which has e1a2 fusion. CML with BCR-ABL gene fusion of this type has a protein product with a molecular weight of 190 kDa or called p190. The third variation is micro-BCR (m-BCR), with BCR gene break between exons E19 and e20b that form mRNA transcripts e19a2, with BCR-ABL protein P230. This fused gene can be detected with qualitative multiplex PCR.
Co-Authors Agung Ridwan Hidayanto Ahmad Yudianto Ahmad Yudianto Aisyah Rachmadani Putri Gofur Alexander Patera Nugraha Almira Rachmawati Amit Bhardwaj An'nisaa Chusida Andi Adani Nurrezeki Andra Rizqiawan Andry Sentosa Anggi Pramita Anuj Bhardwaj Ardyni Febri K Arif Rahman Nurdianto Arofi Kurniawan Aryo Dwipo Kusumo Aspalilah Alias Aulia Ramadhani Benny Saputra Beshlina Fitri Widayanti Roosyanto Prakoeswa Beta Novia Rizky Callista Gladys Fionna Detalicia Daniel Hadinata David Sontani Perdanakusuma Devin Elysia Dhywinanda Dian Agustin Wahjuningrum Dida Devina Dini Parasila Dini Setiyowati Diyang Mahiswari Dwi Susanti Elvira Widya Pangestika Erika Priyanridania Faila Shofa Amarilda Fajariana Fitriani Fanny Nuradiyah Fauzan Fauzan Fery Setiawan Fery Setiawan Fissando Yanuar Muhammad Fridaniyanti Khusnul Khotimah Giftania Nuri Susilo Gilang Rasuna Sabdho Wening Gita Alethea Kristi Maharani Hari Basuki Notobroto Heni Puspitasari I Ketut Brahma Pande Ica Yusticia Imam Safari Azhar Imelda Kristina Sutrisno Indi Mazaya Syarifah Innocencio Kresna Pratama Intan Andiyani Ira Arundina Jennifer Fiona Salim Jesslyn Jordana Karina Awanis Adla Kratika Mishra Kurniati, Mala Lintang Maudina Santosa Lutfi Malia Rossa Mala Kurniati Maria Istiqomah Marini Maya Eka Ramadhani Muhammad Halim Mumtaz Ramadhani Putra Pesat Gatra Nadya Adina Zuhdi Naimatus Sholihah Najminoor Ramadhani Ridlo Nancy Cynthia Sudiartha Ni Nyoman Astari Kumala Dewi Ni Wayan Tirtaningsih Nimatus Sholihah Nindya Rizki Anjani Nindya Rizqi Anjani Ninuk Hariyani Nola Margaret R. Darmawan Setijanto Rauhansen Bosafino Rumokoi Retno Palupi Retno Pudji Rahayu Rizki Amelia Fatah RM Coen Pramono D Rovilla Amalia Salsabila Maghfirani Sepdhyo Wahyu Nugroho Setyabudi Sheetal Khandelwal Shivani Bhardwaj Swadheena Patro Taufan Bramantoro Theresa Dian Krissanti Thomas Reynaldi Winanto Titiek Berniyanti Tito Krisna Gianosa Ully Nafisah Wardi Ulyasari Rachmaningayu Vera Rimbawani Sushanty Veronica Regina Veronica Regina Roselle Vita Ariesta Angesti Vivin Dwi Fadila Widodo Widodo Widya Rizky Romadhona Yasinta Izzah Afidati Yohana Vita Melodi Hutapea Yuliana Merlindika Sembadani Zalfa Karimah Zhafira Putri Syahdryani