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"Walaupun saat ini kanker dikenal sebagai penyakit yang berkaitan dengan lingkungan dan muncul secara sporadis, namun kanker dipertimbangkan sebagai suatu penyakit genetik karena adanya mutasi gen sebagai faktor yang konsisten. Kromosom Philadelphia yang ditemukan pada pasien-pasien leukemia granulositik kronik (LGK) merupakan penemuan kelainan kromosom bermakna pertama yang berkaitan dengan jenis keganasan tertentu. Berawal dari penemuan ini, sitogenetika yang mempelajari kromosom telah menjadi perangkat yang berharga dalam penatalaksanaan kanker ? membantu penegakan diagnosis, panduan terapi, dan petanda prognosis. Pada kegananasan hematologi, kelainan kromosom sebagian besar ditemukan pada sumsum tulang, dan penemuan tersebut lebih patognomonik. Keadaan yang berbeda ditemukan pada tumor padat, dimana saat tumor terlihat dengan mata telanjang telah terjadi perubahan kromosom yang kompleks sehingga menimbulkan kesulitan teknis bagi para ahli sitogenetika. Namun para ilmuwan percaya bahwa adanya kemajuan dalam teknologi kromosom, dari sitogenetika konvensional menjadi sitogenetika molekuler, akan menyediakan informasi lebih lanjut, berkaitan dengan tumor padat.

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AbstractAlthough presently known as an environmentally-related disease and appears mostly sporadic, cancer is regarded as a genetic disease based on the presence of genetic mutation as a consistent factor. The ?Philadelphia Chromosome? found consistently among chronic myeloid leukemia (CML) patients was the first significant finding of a chromosomal abnormality specifically related to a particular disease. Starting from this point, cytogenetics as the study of chromosomes has become a valuable tool in the assessment of cancer ? as an aid in diagnosis, thus guiding therapy, and as a prognostic marker. Chromosomal abnormalities are found mostly in hematological malignancies and the findings are more pathognomonic. The situation is different in solid tumors, which when visible to the naked eye already have complex chromosomal changes and thus pose technical difficulties to the cytogeneticist. However, the scientists believe that the shift in chromosomal studies from conventional cytogenetics to molecular cytogenetics will provide further information regarding solid tumors. "

"ABSTRACTAt the department of Biology - University of Indonesia, the use of a modified von Hemel procedure in slide processing often gives incomplete metaphases due to chromosome losses during the processing. This study is to know the percentage of the incomplete metaphases, to test if the chromosome loss is influenced by chromosome size, and how far all of these will give rise to a false diagnosis. The material is a harvest of fixated blood culture from five normal female patients (46,XX). Slides were prepared from the material and "R-band" stained. Then we analyzed and searched for 115 metaphases with only one chromosome loss that could be analyzed. The result shows that 64.19 % out of 1303 metaphases were incomplete, and 9.29 % or 121 metaphases with only one chromosome loss. It is found that each chromosome has different probability of loss which depends on the size of chromosome. The smaller the chromosome, the greater the chance of loss, but all of these do not lead to any false diagnosis. Chromosome Loss During Slide Processing Using a Modified Von Hemel Procedure;Chromosome Loss During Slide Processing Using a Modified Von Hemel Procedure"

"Penelitian transformasi fragmen DNA Xanthomonas campestris ke dalam Escherichia coli DH5αα, digunakan vektor plasmid Escherichia coli (pUC19). DNA kromosom diisolasi dengan metoda CTAB. DNA plasmid diisolasi dengan metoda alkali lisis. Kedua sumber DNA dipotong menggunakan enzim restriksi EcoRI. Sel kompeten disiapkan dengan CaCl2, transformasi menggunakan metoda kejutan panas.Hasil transformasi didapatkan sebanyak 5 koloni putih (yang mengandung fragmen DNA), dengan frekuensi transformasi sebesar 1,22 x 10-8 koloni putih/sel kompeten. Elektoforesis agarosa menunjukkan variasi ukuran DNA fragmen sebesar 0,5 ? 7,5 kb. Penelitian lebih lanjut perlu dilakukan dengan pembuatan pustaka genom untuk mendapatkan hasil transformasi yang lebih banyak.

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Research on DNA transformation of Xanthomonas campestris into Escherichia coli DH5αα using plasmid vector Escherichia coli (pUC19). was carried out. DNA chromosome was isolated using CTAB method, alkali lysis method was used to isolate DNA plasmid. Both of DNA plasmid and chromosome were digested using restriction enzyme EcoRI. Competent cell was prepared with CaCl2 and heat shock method for transformation procedure.The result revealed transformation obtain 5 white colonies, with transformation frequency was 1,22 x 10-8 colony/competent cell. Electrophoresis analysis showed the DNA fragment (insert) in range 0.5 ? 7,5 kb. Further research should be carried out to prepare the genomic library to obtain better result of transformant."

"The chromosome is a set of DNA structure that carry information about our life. The information can be obtained through Karyotyping. The process requires a clear image so the chromosome can be evaluate well. Preprocessing have to be done on chromosome images that is image enhancement. The process starts with image background removing. The image will be cleaned background color. The next step is image enhancement. This paper compares several methods for image enhancement. We evaluate some method in image enhancement like Histogram Equalization (HE), Contrast-limiting Adaptive Histogram Equalization (CLAHE), Histogram Equalization with 3D Block Matching (HE+BM3D), and basic image enhancement, unsharp masking. We examine and discuss the best method for enhancing chromosome image. Therefore, to evaluate the methods, the original image was manipulated by the addition of some noise and blur. Peak Signal-to-noise Ratio (PSNR) and Structural Similarity Index (SSIM) are used to examine method performance. The output of enhancement method will be compared with result of Professional software for karyotyping analysis named Ikaros MetasystemT M . Based on experimental results, HE+BM3D method gets a stable result on both scenario noised and blur image.Kromosom adalah kumpulan struktur DNA yang membawa informasi makhluk hidup. Informasi yang dapat diperoleh dengan proses Kariotyping. Proses ini membutuhkan citra yang jelas sehingga kromosom dapat dievaluasi dengan baik. Preprocessing harus dilakukan pada citra kromosom melalui penajaman citra. Proses ini dimulai dengan menghapus latar belakang citra. Langkah berikutnya ialah penajaman citra menggunakan metode image enhancement. Makalah ini membandingkan beberapa metode untuk peningkatan citra. Kami mengevaluasi beberapa metode dalam peningkatan gambar seperti Histogram Equalization (HE), Contrast-limiting Adaptive Histogram Equalization (CLAHE), Histogram Equalization with 3D Block Matching (HE+BM3D), dan unsharp masking. Penulis mengevaluasi dan membahas metode terbaik untuk meningkatkan citra kromosom. Oleh karena itu, untuk mengevaluasi metode, gambar asli dimanipulasi dengan penambahan beberapa kebisingan dan blur. Peak Signal-to-noise Ratio (PSNR) and Structural Similarity Index (SSIM) digunakan untuk mengukur kinerja metode. Hasil penajaman dari metode-metode yang dievaluasi akan dibandingkan dengan hasil software profesional untuk analisis kariotipe bernama Ikaros Metasystem T M . Berdasarkan eksperimen diperoleh hasil bahwa HE + BM3D merupakan metode yang paling stabil pada kedua skenario baik citra mengandung noise maupun citra yang kabur."

"The obesity pandemic continues to increase on a world-wide basis with over 70% of the United States population being either overweight or obese. Hematologic malignancies have recently been identified among the obesity associated malignancies spanning the lifespan from childhood to the elderly and include leukemia, myeloma, lymphoma and others. In addition to the etiologic association between obesity and hematologic malignancies, the presence of obesity has profound effects on therapy by impacting pharmacokinetics of chemotherapeutic agents, dose, adipocyte metabolism and drug distribution. These may be particularly important in hematopoietic stem cell transplantation. Another important aspect of the association of obesity with hematologic malignancies is the increased incidence of obesity in children who successfully complete therapy for acute lymphoblastic leukemia. This and other observations indicate important relations between the hematopoietic systems and fat metabolism. This volume on Energy Balance in Hematologic Malignancies will provide an important volume in this series and a basis for better understanding etiology, mechanisms, therapeutics implications and experimental approaches. This volume of energy balance and cancer will focus on the relation of obesity to hematologic malignancies, the epidemiology, potential mechanisms, and thereapeutic considerations including effects on pharmacologic and physical approaches as well as the delayed effects of therapy on energy balance."

"Ruang Lingkup dan Cara Penelitian : Kasus infertilitas dijumpai pada l0%-l5% pasangan suami istri dan 50% kasus disebabkan oleh faktor pria. Salah satu penyebab infertilitas pria adalah faktor genetis yang menimbulkan gangguan kualitatif maupun kuantitatif produksi sperma. Kemajuan biologi molekuler mengungkap adanya gen Azaospermic Factor (AZF) pada lengan panjang kromosom Y dengan tiga subregio yaitu AZFa, AZFb, dan AZFc yang diduga berperan pada proses spermatogenesis. Masingmasing subregio memiliki gen kandidat diantaranya adalah RBMY 1 dan DAZ. Frekuensi mikrodelesi lengan panjang kromosom Y berkisar 1%-55%, paling sering ditemukan pada pria azoospermia. Penelitian mengenai mikrodelesi kromosom Y ini semakin pesat bersamaan dengan kemajuan teknologi reproduksi berbantuan yang memungkinkan beberapa pria infertil memiliki keturunan dengan metode Intracytoplasmic Sperm Injection (ICSI). Teknik ICSI memungkinkan adanya transmisi kelainan genetis pada keturunan laki-laki. Oleh karena itu diperlukan pemeriksaan mikrodelesi kromosom Y untuk menghindarkan terjadinya transmisi tersebut. Pemeriksaan mikrodelesi kromosom Y dilakukan dengan metode PCR menggunakan enam Sequence Tagged Sites (STS) pada 35 pria azoospermia, dan kelompok kontrol yang terdiri dari 10 pria normozoospermia sebagai kontrol positif dan delapan wanita fertil sebagai kontrol negatif. Hasil PCR dielektroforesis pada gel agarosa 2% untuk melihat ada tidaknya pita spesifik untuk mendeteksi mikrodelesi pada sekuen tertentu.Hasil dan Kesimpulan : Pada penelitian ini ditemukan dua dari 35 pria azoosperrnia yang mengalami mikrodelesi pada kromosom Y. Hasil pengujian dengan menggunakan enam STS menunjukkan delesi pada STS sY84 (subregio AZFa), RBMY1 (subregio AZFb), dan sY254 serta sY255 (subregio AZFc). Frekuensi delesi pada penelitian ini adalah 5,7% dan masih dalam kisaran 1%-55% dengan lokasi delesi pada 3 subregio (2,8% pada AZFa+AZFb, dan 2,8% pada AZFc).

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Background : Infertility affects 10% - 15% couples attempting pregnancy and 50% of these cases are caused by male factor. Male infertility factors involve qualitative and quantitative defect of sperm production., which some of them can be ascribed a genetic aetiology. Recent molecular biology studies found Azoospermic Factor (AZF) genes on long arm of Y chromosome which divided into three subregions : AZFa, AZFb, and AZFc which seem required for physiologic spermatogenesis. Each subregion has candidate genes, among them are: RBMYI and DAZ. Incidence of , Y chromosome microdeletion varies from 1% to 55% and most of them related to azoospermia. Studies of Y chromosome microdeletion develop as the assisted reproduction technology does, which possible several infertile male to have offspring by Intracytoplasmic Sperm Injection (ICSI) method. This technique could transmit the genetic defect to male offsprings. Screening for Y chromosome microdeletion is important to avoid this kind of transmission. The study uses PCR method with six Sequence Tagged Sites (STS) on DNA of 35 azoospermic men, and as control groups: 10 normozoospermic men, and eight fertile women and then continue by 2% agarose electrophoresis to find out the presence of microdeletion at certain sequence.

Results and conclusions : This study found two of 35 azoospermic men with Y chromosome microdeletion. By using six STS, deletions were found in STS sY84 (AZFa subregion), RBMY1 (AZFb subregion), and sY254-sY255 (AZFc subregion). Microdeletion incidence (5,7%) is stilt in avarage range of 1'Y13-55% and located in three different subregions (2,8% in AZFa+AZFb subregions, and 2,8% in AZFc subregion)."

"ABSTRAKGen CYP2C8 mempunyai beberapa alel mutan yang menyandi enzim CYP2C8 dengan kapasitas metabolisme yang rendah. Enzim CYP2C8 berperanan penting dalam metabolisme antimalaria amodiakuin menjadi metabolit aktifnya desetilamodiakuin sehingga mutasi pada gen CYP2C8 diduga berpotensi menyebabkan kegagalan terapi maupun kejadian efek samping agranulositosis yang dipicu oleh metabolit nonenzimatiknya amodiakuinkuinonimin.Penelitian observasional ini bertujuan untuk mengetahui frekuensi distribusi alel mutan gen CYP2C8 yaitu CYP2C8*2, CYP2C8*3, dan CYP2C8*4 pada salah satu kelompok etnik yang tinggal di daerah endemik malaria, yaitu suku Nias. Analisis PCR-RFLP untuk identifikasi alel gen CYP2C8 yang dilakukan pada 214 sampel berupa tetes darah di kertas saring (dot blot) dan subjek suku Nias memperlihatkan bahwa semua sampel membawa alel normal (wild type). Dengan tidak ditemukannya alel mutan gen CYP2C8 pada suku Nias, kita dapat berharap bahwa kemungkinan kegagalan terapi amodiakuin dan efek samping obat akibat metabolit nonenzimatiknya pada suku Nias tidak berkaitan dengan polimorfisme gen CYP2C8.

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ABSTRACTThe CYP2C8 gene has been documented to have several alleles encoding enzyme with low metabolic capacity. Since CYP2C8 plays a major role in metabolizing antimalarial drug amodiaquine to its active metabolite desethylamodiaquine, it is assumed that mutation in CYP2C8 gene may potentially lead to treatment failure or to occurrence of adverse drug reactions such as agranulocytosis induced by its nonenzymatic metabolite amodiaquinequinoneimine.The aim of this study was to determine the frequency distribution of CYP2C8 mutant alleles particularly CYP2C8*2, CYP2C8*3 and CYP2C8*4 in one of the ethnic group that resides in malaria endemic area, Nias. PCR-RFLP analysis of 214 dot blot samples from Nias ethnic group subjects revealed that all of the samples carried the wild type allele of the CYP2C8 gene. In the absence of mutant alleles of CYP2C8 among Nias ethnic group, one can expect that treatment failure in amodiaquine therapy and adverse drug reactions associated with reactive metabolite of the drug are not related with CYP2C8 genetic polymorphisms."

"Penelitian ini bertujuan mengetahui frekuensi mikrodelesi kromosom Y pada pria azoospermia di Indonesia. Penelitian ini menggunakan metode PCR dengan lima STS untuk melihat delesi yang timbul pada tiga subregio (AZFa, AZFb, dan AZFc) dan satu STS untuk mengamplifikasi gen SRY yang merupakan kontrol internal. Dari 35 sampel pria dengan azoospermia terdeteksi dua orang (5,7%) yang mengalami mikrodelesi pada kromosom Y (Yq). Mikrodelesi yang terdeteksi dengan enam STS adalah satu orang mengalami delesi pada sY84 (subregio AZFa) dan RBMY1 (subregio AZFb), dan satu orang mengalami delesi pada sY254 dan sY255 (subregio AZFc). Pemeriksaan delesi kromosom Y sangat dianjurkan pada pria azoospermia yang ingin mengikuti program ICSI untuk menghindarkan kelainan genetik pada keturunannya.

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Analysis of Y Chromosome Microdeletion in Indonesian Males. The aim of this study is to find out Y chromosome microdeletion in Indonesian azoospermic men. This study used the PCR method with five STS to locate deletion on three different subregions (AZFa, AZFb, and AZFc) of azoospermic men and one STS to amplify SRY gen which act as an internal control. In this study we detected two of 35 (5,7%) azoospermic men had microdeletion Yq. One had microdeletion on subregion AZFa (sY84) and AZFb (RBMY1) and the other one on subregion AZFc (sY254 and sY255). Therefore microdeletion of the Y chromosome in Indonesian azoospermic men excist. Examination of microdeletion of Y chromosomes in azoospermic men is important if they are going to participate in the Intra Cytoplasmic Infection Program to avoid genetic disorders of their descendants."