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CD35 (DEL C) frameshift mutation in exon 2 of β-globin gene on β-thalassemia carriers Niken Satuti Nur Handayani
Biomedical Engineering Vol 1, No 1 (2015): BIOMEDICAL ENGINEERING
Publisher : Biomedical Engineering

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (264.374 KB)

Abstract

Objective : Our work aimed to determine the type and site of mutations of two β-thalassemia carrier sby usinga sequencing method .Methods: DNA genomes were extracted from both carriers blood samples which, by PCR-SSCP analysis, weresuspected of having mutation in exon2 of β-globin gene. The extracted DNA were used as template foramplification of the exon by using specific primers. Amplicon were then read by using the Sanger(dideoxynucleotide chain terminator) method with the reverse and forward primers. Sequencing data wereanalyzed by using software Chromas Bioedit Lite2.1 and 7.1.9Result : The results of the analysis showed the presence of C deletion at codon 35 (Cd 35(del C)) which causesa codon frameshift on both carriers.Conclusion : NLS extract and fractions have high SOD antioxidant value but low DPPH scavenging activity andcan be used as potential hypoglycemic agent.
Phenotype of Transgenic Tobacco Plants (Nicotiana tabacum cv. Petit Havana SR-1) Expressing 1724orf13 Gene of Agrobacterium rhizogenes strain MAFF301724 Niken Satuti Nur Handayani; Nobukazu Tanaka; Kazuo Yoshida
Indonesian Journal of Biotechnology Vol 12, No 2 (2007)
Publisher : Universitas Gadjah Mada

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (128.365 KB) | DOI: 10.22146/ijbiotech.7771

Abstract

Nicotiana tabacum cv. Petit Havana SR-1 transgenic plants expressing ORF13 of Agrobacterium rhizogenes strainMAFF301724 under different promoters displayed plant morphology abnormalities. They were small, with shortand variable internodes lengths; leaves were small, asymmetric, rounded, wrinkled and dark green; flowers wereshort, and irregularly shaped. This phenotype was also exhibited, similar, but not completely the same, to those ofhairy root syndrome, indicating that expression of ORF13 influences plant development.Keywords: ORF13, Agrobacterium rhizogenes strain MAFF301724, transgenic plants, morphology abnormalities
Cephalometry Variation of Bataknese Maria Natalina Lumban Gaol; Niken Satuti Nur Handayani
Berkala Ilmiah Biologi Vol 13 No 1 (2022): Jurnal Berkala Ilmiah Biologi
Publisher : Fakultas Biologi Universitas Gadjah Mada

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.22146/bib.v13i1.4100

Abstract

Indonesia is a country that consists of various ethnic groups, one of the largest ethnic groups in Indonesia is Bataknese. Bataknese divided into several sub-ethnics, with the largest sub-ethnics are Batak Toba, Batak Karo and Batak Simalungun. This research aims to analyze cephalometric variation of Bataknese. An increase of various ethnic groups in various regions, followed by an increase in traffic activity and the quantity of crime can lead to an increase of traffic accidents and crime victims. Therefore, this research needs to be carried out to determine cephalometric variations and cephalometric index in the Bataknese which can be used in the process of revealing the identity of crime victims and traffic accidents. This research involved 60 subjects of Bataknese, consisting of 20 people of Batak Toba, 20 people of Batak Karo, and 20 people of Batak Simalungun. The method in this research consisted of submit ethical clearance, subject data collection, subject measurement, cephalometric index calculation, and data analysis. The results showed that Batak Toba, Karo, and Simalungun have brachycephalic head type, wide forehead type, and platyrrhine nose type. Batak Toba and Batak Karo are known to have a leptoprosopic facial type, while Batak Simalungun has mesoprosopic facial type. In this research, it was also showed that between Batak Toba and Batak Karo there were no significant differences in all body size and cephalometric data, but between Batak Toba and Batak Simalungun there were significant differences in minimum frontal width, nose width, and frontoparietal index, while between Batak Simalungun and Batak Karo there were significant differences in minimum frontal width and facial width.
Diversity of Bivalves in Cengkrong Mangrove Trenggalek, East Java Based on Morphological and Molecular Character Mukhlis, Mukhlis; Niken Satuti Nur Handayani; Trijoko
Jurnal Moluska Indonesia Vol. 8 No. 1 (2024): April 2024
Publisher : Masyarakat Moluska Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.54115/jmi.v8i1.75

Abstract

Bivalves in mangrove ecosystem plays an important role in the process of litter decomposition and mineralization of organic matter, especially that are herbivores and detrivor. Bivalves in one ecosystem can be known by looking the morphologic character, while the molecular character can be use to know the genetic variation of species in population. The purpose of this research was to determine species diversity of bivalve, and to understand the morphological and molecular characters of them. Phenetic Similarity analyzed using 109 morphological characters, ISSR 6 ISSR 8 primer. The results were analyzed using MVSP 3.1 (Multi-Variate Statistical Package) program to obtain a dendogram that show similarity of bivalves. Four species of bivalves identified, consisting of Polymesoda Erosa, Meretrix meretrix, Pholas sp., and Glauconome virens. Based on morphological and molecular analysis showed two main clusters with the similarity of 54.8% for morphology and 57.6% for molecular. Based on analysis of morphological and molecular characters, it can be concluded that the diversity of the bivalves in ​​mangrove forests Cengkrong is influenced by morphological structure, meristik, morphometric shell, and the type of habitat.
The Role of Host Genetics Regulating Proteins in HIV-1 Susceptibility: Epidemiological and Demographic Insights on HIV-1 in Indonesia (2022) Saefudin, Siti Amalia Firdza; Handayani, Niken Satuti Nur
Indonesian Journal of Tropical and Infectious Disease Vol. 12 No. 3 (2024)
Publisher : Institute of Topical Disease Universitas Airlangga

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.20473/ijtid.v12i3.54366

Abstract

Human Immunodeficiency Virus type 1 (HIV-1) remains a global public health concern, marking 52,995 cases in Indonesia alone, dominated with CRF01_AE strain which is classified as an X4 strain or a virus that uses CXCR4 co-receptor. This highlights the urgent needs  to develop therapies that utilize CXCR4 inhibitors to modulate HIV-1 infection and replication. The aims of this study were to assess the epidemiological and demographic insights on HIV-1 in Indonesia in 2022, and connecting it to the dominated strain to further assess various host genetics known to promote HIV-1 infection, focusing on the co-receptors CCR5 and CXCR4. A systematic review was conducted, analyzing published studies and the 2022 HIV/AIDS report from the Ministry of Public Health of Indonesia. Additionally, the study evaluated the therapeutic potential of CXCR4 antagonists, including AMD3100, AMD070, BPRCX807, and MCo-CVX-5c, known for their anti-HIV-1 activity. Among the listed antagonists, AMD070 and MCo-CVX⎯5c are advancing among the others, leading to a potential most advanced combination antiretroviral therapy (cART). This research contributed to the development of personalized treatment strategies for HIV-1 by providing insights into the genetic factors influencing co-receptor regulation and HIV-1 susceptibility.
Nonsense Mutation (c.1425G>A-p.Trp475Ter) Associated with Oculocutaneous Albinism Type 1A (OCA1A) in Yogyakarta Karmilah, Karmilah; Dian Pratiwi, Arini; Nur Handayani, Niken Satuti
Jurnal Kedokteran Brawijaya Vol. 33 No. 4 (2025)
Publisher : Fakultas Kedokteran Universitas Brawijaya

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.21776/ub.jkb.2025.033.04.8

Abstract

Oculocutaneous Albinism (OCA) is a disorder characterized by impaired melanin synthesis that leads to hypopigmentation of the skin, hair, and eyes, accompanied by distinct ocular abnormalities. The global prevalence of all forms of albinism is approximately 1 in 17,000 individuals, and OCA1 is the most common type. OCA1 results from mutations in the TYR gene and specifically involves a complete loss of tyrosinase enzyme function, resulting in a total absence of pigment in the skin, eyes, and hair. This case report describes two male patients with congenital symptoms of extremely light or depigmented skin and hair. Both presented with white eyelashes and eyebrows, grayish irises, and ocular abnormalities, including nystagmus, photophobia, and strabismus. The analysis showed a genetic variant in the exon of the TYR gene with the mutation variant c.1425G>A/p.Trp475Ter and was found to be a nonsense mutation.
Indek Matos-Carvalho sebagai Perbandingan dengan Indeks Diskriminan Lain pada Talasemia Beta Awal Mulyadi, Mulyadi; Mulyati, Mulyati; Ratnaningsih, Tri; Harahap, Nur Imma; Lesmana, Indra; Handayani, Niken Satuti Nur
Jurnal Biomedika dan Kesehatan Vol 7 No 2 (2024)
Publisher : Fakultas Kedokteran Universitas Trisakti

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18051/JBiomedKes.2024.v7.208-217

Abstract

Background Microcytic hypochromic anemia is the most common type of anemia found in Beta Thalassemia Trait and Iron Deficiency Anemia, posing a diagnostic challenge due to their similar presentations. Diagnostic errors among them can lead to incorrect treatment, potentially resulting in fatal outcomes. In Indonesia HPLC (High Performance Liquid Chromatography) usage as gold standard for discrimination between these diseases are expensive. Discrimination indices offer an alternative for cheaper and effective initial screening. However, a comprehensive performance evaluation of those indices, such as Matos and Carvalho indices, alongside Mentzer index, Green and King index, England and Fraser index, RBC index, Shine and Lal index, and Srivastava index, has not been conducted in Indonesia. This study aims to determine the best discriminative performance index based on the highest Youden’s indes value between those seven indices. Methods Study consisted of 30 subjects of beta thalassemia trait and 35 subjects of iron deficiency anemia. Index calculations were performed using blood profile formulas and compared with gold standard test results to find each index sensitivity, specificity, and Youden’s index value. Results Matos and Carvalho indices exhibited superior discriminatory performance, achieving 80% sensitivity, 77.1% specificity, and a Youden's index of 57.14%. Among other indices, the RBC index demonstrated the highest sensitivity (90%), while the Green and King index excelled in specificity (97.14%). MCV and MCH values did not significantly differ between BTT and IDA groups. Conclusions The study's findings underscore the efficacy of Matos and Carvalho indices in discriminating BTT and IDA in this study population, highlighting their potential as valuable tools in initial screening efforts.
IDENTIFICATION OF GENETIC DIVERSITY CYTOCHROME OXIDASE SUBUNIT II (COII) MITOCHONDRIAL GENE AS GENETIC MARKER FOR ANISAKIS SPECIES IN Euthynnus affinis Utami, Prasetyarti; Handayani, Niken Satuti Nur; Kunda, Rony Marsyal
Jurnal Kedokteran Hewan Vol 11, No 4 (2017): December
Publisher : Universitas Syiah Kuala

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.21157/j.ked.hewan.v11i4.2960

Abstract

ABSTRACTThis study aimed to get specific genetic marker for Anisakis sp. identification on mackerel tuna using gene sequence cytochrome oxidase subunit II (COII) mitochondrial deoxyribonucleic acid (mtDNA) and to identify taxonomic affiliation between Anisakis sp. from Indonesia and others Anisakis sp. from GenBank database. This study started with sample collections at three fish auctions in Cilacap (Central Java), morphology classification, DNA isolation, and molecular based identification using polymerase chain reaction (PCR) and sequencing methods. Molecular based identification of Anisakis used gene amplification COII mtDNA as a cell target prior to sequence. Morphology characteristic results showed that Anisakis nematodes which infected mackerel tuna classified as type II L3 larvae. Molecular based identification showed significant result, which found 530 bp COII DNA gene fragment similar to target cell. Gene sequencing alignment results of COII Anisakis gene compared with GenBank showed 11 different nucleotide sites that can be used as genetic barcode for Indonesian Anisakis sp. This study showed that Anisakis sp. infected mackerel tuna in Java Sea is Anisakis physeteris and considered as zoonosis.
Innovation in the formulation of a mas banana-based culture medium for the growth of mutant Drosophila Melanogaster in genetics practicum Muslifah Hasanah; Rio Tri Rahmawati; Niken Satuti Nur Handayani
Edulab : Majalah Ilmiah Laboratorium Pendidikan Vol. 11 No. 1 (2026)
Publisher : Laboratorium Pendidikan Fakultas Ilmu Tarbiyah dan Keguruan Colaboration with Persatuan Pranata Laboratorium Pendidikan Indonesia Tingkat Nasional

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14421/edulab.2026.111.02

Abstract

Purpose – This study aimed to develop a culture medium based on Mas banana (Musa acuminata) with the addition of fermented cassava (tapai singkong) or soybean flour as supplementary nutrient sources to support the optimal growth of mutant Drosophila melanogaster, particularly strains with lower reproductive rates such as Ebony, Vestigial, and White. Design/methodology/approach – The study employed an experimental design in which each culture medium was tested on three mutant types with three replications and compared to the wild type. The observed parameters included the number of male and female fruit flies after a 14-day incubation period. Data were analyzed using a One-Way ANOVA test. Findings – The results showed that the Mas banana medium supplemented with fermented cassava produced the highest number of fruit flies across all mutant types. While no significant differences were observed in the number of female flies across treatments, significant differences were found in the number of male flies in the Ebony and White mutants, particularly between fermented cassava and soybean flour treatments. The fermented cassava medium yielded the most consistent and highest population due to its sugar content and fermentative microorganisms, which increase the availability of energy and nutrients for larval development. Research implications/limitations – These findings imply that fermented cassava-based media can enhance larval development and improve the efficiency of maintaining mutant Drosophila melanogaster cultures in laboratory settings. However, the study is limited to specific mutant strains and controlled laboratory conditions, suggesting that further research is needed to validate its applicability across broader genetic variants and environmental conditions. Originality/value – The integration of Mas banana and fermented cassava offers a novel, cost-effective, and practical alternative for genetics practicum, bridging traditional fermentation knowledge with modern laboratory applications and contributing to the advancement of biology education.
Identifikasi Mutasi Gen β Globin Ekson 1 Pada Pembawa Thalassemia Satuti Nur Handayani, Niken; Tripramudya Onggo, Andika
Biogenesis: Jurnal Ilmiah Biologi Vol 2 No 1 (2014)
Publisher : Department of Biology, Faculty of Sci and Tech, Universitas Islam Negeri Alauddin Makassar

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.24252/bio.v2i1.469

Abstract

Thalassemia is an autosomal recessive genetic mutation disorder with symptoms similliar to anemia that causes deficiency synthesis of the globin chains (hemoglobin component inside erythrocytes). Thalassemia is classified based on secondary protein structure abnormalities in α globin protein or β globin protein. Based on data from Indonesian Thalassemia Foundation (YTI) in Indonesia, people with thalassemia, especialy β thalassemia is constantly increasing 8 to 10% per year, so it is very impotant to have a strategy that reduce the increasing number in the population. Genetic examination on the individual is very effective to detect quickly the person with thalassemia trait carrier, to reduce the number of thalassemia carrier population. Identification of 1st exon β globin gene mutations with sequencing method is one of the way to know the specific mutation in thalassemia carriers. Identification results can be used as a reference for the rapid detection of thalassemia trait carrier. This study aims to determine the type of mutation and location of nucleotide mutations in 1st exon β globin gene on carrier of thalassemia and the changes of amino acid translated by the mutant gene. The study was conducted by isolating the genome from the β thalassemia carrier blood, amplifying and sequencing the 1st exon β globin gene. The location of point mutation analysis and the changes of amino acid, was analyzed using computational method by comparative alignment using normal β globin gene as a comparison. The results of the research showed there is a point mutation in the 59th nucleotide caused by transition (T to C) and 147th nucleotide caused by transversion (G to C). The mutation type found on this study was a silent mutation because there is no change in the translated amino acid.Keywords: β globin, exon 1, mutation, thalassemia