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All Journal Jurnal Kedokteran Brawijaya MANDALA of Health Journal of Biomedicine and Translational Research Jurnal NERS MEDISAINS Majalah Kedokteran Universa Medicina Jurnal Pengabdian Pada Masyarakat Dinamisia: Jurnal Pengabdian Kepada Masyarakat Molekul: Jurnal Ilmiah Kimia Scripta Biologica Jurnal Informatika dan Rekayasa Elektronik Journal of the Indonesian Medical Association : Majalah Kedokteran Indonesia Journal Of Bionursing Jurnal Comprehensive Health Care BALABA (JURNAL LITBANG PENGENDALIAN PENYAKIT BERSUMBER BINATANG BANJARNEGARA) Indonesian Journal of Global Health research Insights in Public Health Journal JKKI : Jurnal Kedokteran dan Kesehatan Indonesia Jurnal Riset Rumpun Ilmu Kedokteran (JURRIKE) Mandala of Health : A Scientific Journal Jurnal Keperawatan Soedirman (The Soedirman Journal of Nursing) Jurnal Ekonomi, Bisnis, dan Akuntansi Medical and Health Journal Indonesian Journal of Dentistry Karunia: Jurnal Hasil Pengabdian Masyarakat Indonesia Linggamas: Jurnal Pengabdian Masyarakat
Lantip Rujito
Departemen Genetika Dan Biologi Molekuler, Fakultas Kedokteran Universitas Jenderal Soedirman
Religion Agriculture, Biological Sciences & Forestry Humanities Biochemistry, Genetics & Molecular Biology Chemical Engineering, Chemistry & Bioengineering Chemistry Computer Science & IT Decision Sciences, Operations Research & Management Dentistry Economics, Econometrics & Finance Education Engineering Health Professions Immunology & microbiology Languange, Linguistic, Communication & Media Medicine & Pharmacology Nursing Public Health Social Sciences Veterinary Other

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Journal : Universa Medicina

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Hair root FMRP expression for screening of fragile X full mutation females Rujito, Lantip; Kustiani, Dwi; Severijnen, Lies Anne; Hanzon, Peter; Faradz, Sultana MH; Willemsen, Rob
Universa Medicina Vol 30, No 1 (2011)
Publisher : Faculty of Medicine, Trisakti University

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18051/UnivMed.2011.v30.11-21

Abstract

The fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the cytosine-guanine-guanine (CGG) repeat in the fragile X mental retardation 1 (FMR1) gene located on the X chromosome. Antibody tests have been developed to identify fragile X patients, based on the presence or absence of fragile mental retardation protein (FMRP) in both lymphocytes and hair roots. The objective of this study was to compare correlations of hair root and lymphocyte FMRP expression with cognitive functioning in female rural area probands carrying the full mutation. Thirty females (normal, premutation, or full mutation) were selected from Indonesian fragile X families and were tested for FMRP expression in lymphocytes and hair roots using the FMRP antibody test. Subject genotype was determined by Southern blot analysis, and IQ equivalent by Raven’s Standard Progressive Matrices. Statistical analysis was by Pearson correlation. FMRP expression in blood lymphocytes was relatively higher than that in hair roots, but hair root FMRP expression was strongly correlated with cognitive functioning in female full mutation carriers (r=0.64, p=0.015), whereas no significant correlation between lymphocyte FMRP and cognitive functioning was found (r=0.31, p= 0.281). Around 14% of subjects had a normal and 7% a borderline IQ level, while 79% had mild mental impairment. In conclusion, hair root FMRP expression may be a useful marker for identification of fragile X full mutation females.
GLUTATHIONE S TRANSFERASE AND CATALASE GENE POLYMORPHISMS DID NOT TEND TO INFLUENCE THE SEVERITY OF HEMOGLOBIN E/β-THALASSEMIA Rujito, Lantip; Widodo, Yundandhika Rizki; Sakina, Ghaida; Santosa, Qodri; Hapsari, Ariadne Tiara
Universa Medicina Vol 39, No 1 (2020)
Publisher : Faculty of Medicine, Trisakti University

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (743.873 KB)

Abstract

BackgroundThalassemia, a monogenic genetic disease of red blood cells, is spread widely throughout the world. Glutathione S transferase (GST) enzymes have an antioxidant role in detoxification processes of toxic substances This study aimed to determine the role of the genetic modifier genes GSTT1 and GSTM1, and the catalase (CAT) gene in clinical degrees of hemoglobin (Hb)E/? thalassemia. MethodsSixty HbE/? Thalassemia patients were examined to determine their clinical pictures. Clinical score was based on age when thalassemia symptoms appeared, time of diagnosis, time of first blood transfusion, pre-transfusion hemoglobin concentration, frequency of transfusions, and enlargement of spleen. Ferritin concentration was also obtained from medical records. Gene polymorphisms of GSTT1, GSTM1, and CAT were measured using PCR and PCR-RFLP methods. Clinical scores were categorized into mild (0-3.5), moderate (4-7), and severe (7.5-10) degrees, while ferritin level was expressed in mg/dL. One way Anova was used to analyze the data. ResultsThe clinical appearance showed that severe, moderate, and mild degrees accounted for 42%, 45%, and 13%, respectively. The majority had a high ferritin level of more than 5000 mg/dL (67%). GSTT1 null, GSTM1 null, and CAT minor allele genotypes were 21.7%, 33.3%, and 12.1%, respectively. GSTT1, GSTM1, and CAT genotypes had no impact on the severity of thalassemia patients (p=0.091, p=0.082, and p=0.141, respectively).ConclusionGSTT1, GSTM1, CAT gene polymorphisms tend to be a minor aspect of severity of clinical outcome for HbE/â thalassemia patients and should be not considered a routine laboratory check.
Aminolevulinate dehydrogenase polymorphisms did not modified lead serum and memory relationship Lantip Rujito; Arini Dewi Setyowati; Saien Saien
Universa Medicina Vol. 31 No. 3 (2012)
Publisher : Faculty of Medicine, Universitas Trisakti

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18051/UnivMed.2012.v31.184-191

Abstract

BACKGROUND Lead accumulation in the blood widely known affecting the formation of heme and oxygen transport processes in vital organs, Leading to organ failure including the brain synapses. Lead affinity has been recognized influenced by constitutional genotype of aminolevulinate dehydrogenase (ALAD), which encodes for heme synthesis. This research aimed to determine the relationship between plumbum (Pb) and short term memory on each ALAD gene genotyping (ALAD 1-1, ALAD 1-2 or ALAD 2-2) in gas station workers. METHODS Seventy six probands from gas station workers were recruited to participate in this research. Each probands was carried out ALAD genotyping using polymerase chain reaction-restriction fragment length polymorphism (PCRRFLP) method, lead serum level using atomic absorbent spectrophotometer (AAS), and short term memory was measurement by intelligence structure test (IST). RESULTS Proportion of δ ALAD 1-1, 1-2, and 2-2 were 91.8%, 8.2% and 0% respectively. Lead serum showed 15.84 ppb in homozygous 1-1, and 20.79 ppb in heterozygous. Short term memory in the probands varied from 85 until 117, with average in 99.71. There was significant negative relationship between lead serum and short term memory (r=-0.24; p=0.038). However, we could not find any significant correlation in each δ ALAD genotypes. CONCLUSION The δ ALAD genotypes did not modified the relationship between serum lead level and short term memory in gas station workers.
Co-Authors A. Haris Budi Widodo Abdul Aziz Agus Suroso Alfi Muntafiah Ali Taqwim Alifah, Assha Luthfianie Amalia Muhaimin Amilia Ramadhani Aminuddin, Muhammad Fahmi Anton Budhi Darmawan Arfi Nurul Hidayah Ariadne Tiara Hapsari Ariadne Tiara Hapsari Ariadne Tri Hapsari Arif Imam Hidayat Arini Dewi Setyowati Assha Luthfianie Basalamah, Muhammad Darmawan, Anton Budhi Desiyani Nani Dhadhang Wahyu Kurniawan Dinar Faiza Diyah Woro Dwi Lestari Dwi Kustiani, Dwi Dwi Utami Anjarwati Dyla Annisa Putri Eman Sutrisna Eman Sutrisna Faiza, Dinar Farah Coutrier Filliana Savitri Fitranto Arjadi Fitranto Arjadi Fitranto Arjadi Fitranto Arjadi Gembong Satria Mahardhika Gembong Satria Mahardhika Hatmoko, Sito Hidayat Sulistyo Ika Murti Harini Ika Ristianingrum, Ika Ina Permata Dewi Indah Pusparini Indah Rahmawati Intani Kurnia Savitri Izzati Muhimmah Joko Mulyanto Joko Mulyanto Joko Mulyanto, Joko Joko Setyono Khafid Nawawi Kotale, Nichola Noelle Krisniawati, Nia Lalu Mutawalli Leily Trianty Lestari , Diyah Woro Dwi Lestari, Diyah Woro Dwi Lies Anne Severijnen, Lies Anne Metta Ayu Susanti Metta Ayu Susanti Miko Ferine Moh Reza Syaifur Rizal Monika Putri Solikah Muhammad Nur Hanief Muhammad Nur Hanief, Muhammad Nur Mujiburrahman, Husnan Nendyah Roestijawati Norina Agatri Nouval Keandre Nur Signa Aini Gumilas Nurcahyani, Putri Silvia Pamela Sandhya De Jaka Paulus Gozali Paulus Gozali, Paulus Peter Hanzon, Peter Pramuditya, Hafizh Zufar Pugud Samodro Purwoko, Ari Qodri Santosa Qodri Santosa, Qodri Rani Afifah Nur Histiyani Rendi Retissu Rintis Noviyanti Rizki Rijatullah Rob Willemsen, Rob Rohmatul Fajriyah Saien Saien Sakina, Ghaida Saryono Saryono Siti Aminah Siti Munfiah Siwi Pramatama Mars Wijayanti SIWI PRAMATAMA MARS WIJAYANTI Sjafril Sanusi Sultana MH Faradz Suprihatin Suprihatin Teguh Haryo Sasongko Thianti Sylviningrum Vitasari Indriani Wahyu Siswandari Wahyudin Wahyudin Wahyudin Wahyudin Wayan Tunas Artama Widodo, Yundandhika Rizki Wijaya, Helmi Aditya Wiwiek R Adawiyah Yudhi Wibowo Zaenal Adi Susanto Zulfa Zahra Salsabila