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Identifikasi Mutasi Gen β Globin Ekson 1 Pada Pembawa Thalassemia Satuti Nur Handayani, Niken; Tripramudya Onggo, Andika
Biogenesis Vol 2, No 1 (2014)
Publisher : Jurusan Biologi UIN Alauddin Makassar

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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
Analisis Pedigree dan Fenotip Pasangan Kembar: Studi Kasus Pada Keluarga Kembar di Kecamatan Laweyan, Surakarta Machwiyah, Yuyun; Satuti Nur Handayani, Niken
Biogenesis Vol 1, No 1 (2013)
Publisher : Jurusan Biologi UIN Alauddin Makassar

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Abstract

The twin pregnancy is a kind of pregnancy with two or more fetuses. Basically, the twins can be grouped of two, they are fraternal twins (dizygotic) and identical twins (monozygotic). Fraternal twin is a kind of twins that comes from two ova, which each of them will be fertilized by the sperm. While, identical twin comes from an ovum, which fertilized by a sperm. This research is conducted in order to observe the inheritance pattern from the pedigree chart, and to observe similarity and dissimilarity phenotype between twin couple on families observed. Methods used for this research are data collection to construct pedigree, phenotype analysis to compare the similarity and dissimilarity phenotype between the twins that are observed, paraffin method to observe the form of hair from cross section and agglutination reaction to observe the blood group from the twins. Based on pedigree chart of twins in Laweyan, Surakarta, it seems that the identical twins is passedfrom generation to generation, and on the family observed the inheritance pattern of identical twins birth process is come from the women of identical twins. The lobe of ear from each twins there is a twin couple showing the different lobe. There is any similarity and dissimilarity relate to form of hair cross section from each couple. The blood group of each couple are showing the same result.Keywords: identical twins, inheritance pattern, pedigree chart
Karakter Morfologis dan Molekular Macrobrachium spp. dari Sungai Opak Daerah Istimewa Yogyakarta T, Trijoko; Satuti Nur Handayani, Niken; Widianawati, Anita; Eprilurahman, Rury
Biogenesis Vol 3, No 1 (2015)
Publisher : Jurusan Biologi UIN Alauddin Makassar

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Abstract

Several rivers flow across Daerah Istimewa Yogyakarta (DIY includes Opak River which it’s upstream located on Merapi Volcano area. The river has a lot of biological resources, includes prawns. Freshwater prawns (Macrobrachium spp.) has important role in maintaining the balance of freshwater ecosystems. The purpose of this research was to determine species diversity of Macrobrachium spp. and to understand the morphological and molecular characters of them. Phenetic similarity was analyzed using 74 morphological characters, ISSR1 and ISSR3 primers. The results were analyzed using a program MVSP 3.1 (Multi- Variate Statistical Package) to obtain a dendogram that showed both intra-and interspecies similarity of Macrobrachium spp. Six species of Genus Macrobrachium were identified, they are Macrobrachium pilimanus, M. sintangense, M. lanchesteri, M. cowlesi, M. latidactylus, and M. equidens. Both morphological and molecular analyses show two major clusters with the similarity of 55.6% for morphology and 21.52% for molecular. Based on morphological and molecular characters analysis, we concluded that phenetic similarity of Macrobrachium spp. in Opak River was affected by the morphological structure of the second pereiopod, habitat type, size and number of eggs, as well as the type of larval development.Keywords: characters, Macrobrachium, molecular, morphology, Opak River
Phenotype of Transgenic Tobacco Plants (Nicotiana tabacum cv. Petit Havana SR-1) Expressing 1724orf13 Gene of Agrobacterium rhizogenes strain MAFF301724 Nur Handayani, Niken Satuti; Tanaka, Nobukazu; Yoshida, Kazuo
Indonesian Journal of Biotechnology Vol 12, No 2 (2007)
Publisher : Universitas Gadjah Mada

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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
Analisis Kariotipe Ular Trawang (Coelognathus radiatus, (Boie 1827)) Qurniawan, Tony Febri; Arisuryanti, Tuty; Nur Handayani, Niken Satuti
JURNAL BIOLOGI INDONESIA Vol 8, No 2 (2012): JURNAL BIOLOGI INDONESIA
Publisher : Perhimpunan Biologi Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14203/jbi.v8i2.3047

Abstract

Analysis of Radiated Ratsnakes (Coelognathus radiatus, (Boie 1827) Karyotype. Radiatedratsnake is a reptile which has an economic potential an export comodyty. However, there arefew reports on genetic studies of radiated ratsnake. The aim of this research was to examinechromosome characters of the radiated ratsnake collected from Sewon, Bantul, Daerah IstimewaYogyakarta. Chromosome preparation method used was splash using blood culture. The resultsrevealed that the diploid chromosome number (2n) of radiated ratsnake was 30, classified asmetacentric (chromosome pairs number 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, dan 11), submetacentric(chromosome pairs number 12 and 13), and telocentric (chromosome pairs number 14 and 15).Therefore the karyotype formula of radiated ratsnake was 2n = 2x = 30 = 22 m + 4 sm + 4 t. Theresult showed that the shortest of short arm chromosomes was 0 ?m, the longest one was0.665 ± 0.0504 ?m, the shortest of long arm chromosomes was 0.268 ± 0.0011?m, the longestone was 0.746 ± 0.0059 ?m, the shortest of total length chromosomes was 0.27 ± 0.001 ?m, andthe longest of total length chromosomes was 1.41 ± 0.045 ?m. The R value was 5.267 ± 0.15408indicating that radiated ratsnake from Sewon, Bantul, Daerah Istimewa Yogyakarta haschromosome variation size.Keywords: Coelognathus radiatus, blood culture, chromosome character, karyotype
PLASTISITAS FENOTIP GASTROPODA MANGROVE TAMAN NASIONAL ALAS PURWO: MORFOMETRI CANGKANG DAN OPERKULUM Niken Satuti Nur Handayani, Susintowati, Suwarno Hadisusanto, Nyoman Puniawati, Erny Poedjirahajoe d
PROSIDING SEMINAR NASIONAL 2018: PROSIDING SEMINAR NASIONAL
Publisher : PROSIDING SEMINAR NASIONAL

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Abstract

Cangkang Gastropoda merupakan wujud perkembangan ontogeni yang jelas. Plastisitas fenotip (cangkang) dapat menjadi rekaman respon adaptasi terhadap lingkungan. Tujuan penelitian adalah mengetahui platisistas fenotip Gastropoda mangrove Taman Nasional Alas Purwo (TNAP), sebagai pembuktian bahwa adaptasi struktural terjadi walaupun terindikasi ekosistem mangrove di sini masih alami. Lokasi sampling ditentukan berdasar area sampling, data populasi menggunakan metode transek kuadrat. Lokasi pengambilan data di mangrove Bedul (3 transek), mangrove Jatipapak (3 transek) saat spring low tide. Transek kuadrat (multi plot sampling) sepanjang ±300 m, 20 plot per transek dan luas tiap plot 4m². Parameter lingkungan diukur pada masing-masing lokasi (in situ). Semua parameter yang terukur dalam kisaran normal. Jumlah spesies yang ditemukan di kedua lokasi sebanyak 18 spesies. Spesies terpilih merupakan spesies dengan populasi yang dapat ditemui disemua lokasi sampling dan menunjukkan tanda variasi morfologi dan atau dijumpai simbion pada cangkang. Plastisitas fenotip ditentukan berdasar morfometri cangkang dan operkulum: Terebralia sulcata, Chicoreus capuccinus, Nerita planospira dan Nerita balteata. Populasi Chicoreus capuccinus di Jatipapak ±80% bersimbiosis dengan Bivalvia Saccostrea cucullata, sedangkan di Bedul sekitar ±60%; pada populasi Nerita planospira ±40%; populasi Nerita balteata tidak bersimbiosis, namun mempunyai variasi rasio panjang dan lebar cangkang yang menyolok khususnya populasi di Bedul. Berdasarkan persamaan garis regresi linier dan nilai koefisien korelasi, keberadaan bivalvia simbion berpengaruh terhadap fenotip Chicoreus capuccinus, Terebralia sulcata dan Nerita planospira pada beberapa parameter rasio morfometri cangkang namun tidak pada operkulum. Plastisitas fenotip cangkang juga ditemui pada individu yang normal.Kata kunci: Plastisitas fenotip, morfometri, Gastropoda mangrove, adaptasi struktural
Keterkaitan Jumlah Daerah Termutasi pada Gen β-globin dengan Indeks Korpuskular Pembawa Sifat β-thalassemia Priyambodo, Priyambodo; Nur Handayani, Niken Satuti
Jurnal Penelitian Sains Vol 18, No 2 (2016)
Publisher : Faculty of Mathtmatics and Natural Sciences

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Abstract

Thalassemia is a genetic dissorder caused by point mutation on the globin gene that decreasing the corpuscular index on thalassemian, included the carrier of thalassemia. Three to five percents of Indonesian is thalassemia carrier, β- thalassemia is the most common type. This research aimed to identify the relationship between the number of mutated region on β-globin gene and the decreasing of corpuscular index on β-thalassemia carrier. The data was collected during 2012 to 2014 in Yogyakarta. Hematological analysis was performed by corpuscular index included mean corpuscular volume (MCV), mean corpuscular haemoglobin (MCH), and mean corpuscular haemoglobin concentration (MCHC) in Prodia Laboratory. Molecular analysis was performed by the polymerase chain reaction-single stand conformation polymorphism (PCR-SSCP) method in Laboratory of Genetics and Laboratory of Falitma, Biology Faculty, University of Gadjah Mada. Of a total of 96 individual screeaned, there were 9 suspects β-thalassemia carrier with 1 β-globin gene mutated region showed the average of MCV 63,1 fl, MCH 19,76 pg and MCHC 32,34 g/dl. Seven suspects β-thalassemia carrier with 2 β-globin gene mutated regions showed the average of MCV 61,16 fl, MCH 19,74 pg, and MCHC 32,3 g/gl. One suspect β-thalassemia carrier with 3 β-globin gene mutated regions showed the average of MCV 64,2 fl, MCH 19,5 pg, and MCHC 30,4 g/dl. The number of β-globin gene mutated region was not the main factor of decreasing the corpuscular index on β-thalassemia carrier.
Hubungan Kekerabatan Fenetik Lycopersicon esculentum Mill. Kultivar Betavila F1, Fortuna F1 dan Tymoti F1 Berdasarkan Tingkat Kesamaan Fenotip Niken Satuti Nur Handayani, Muhammad Thoifur Ibnu Fajar Purnomo
Biota : Jurnal Ilmiah Ilmu-Ilmu Hayati Vol 1, No 2 (2016): June 2016
Publisher : Universitas Atma Jaya Yogyakarta

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (306.326 KB) | DOI: 10.24002/biota.v1i2.996

Abstract

Tujuan penelitian ini untuk menentukan hubungan kekerabatan fenetik ketiga kultivar tomat Betavila F1, Fortuna F1 dan Tymoti F1 melalui pendekatan fenotip daun, bunga, dan buah. Sampel penelitian diambil dari greenhouse Situbondo. Bagian tanaman yang diamati terdiri dari 42 karakter, meliputi bentuk daun, bentuk mahkota bunga, warna mahkota bunga, bentuk buah, warna buah muda, transisi dan matang. Data skoring karakter fenotip dianalisis dengan Jaccard coefficient menggunakan software MVSP. Hasil dendogram dibagi menjadi empat klaster dengan indeks similaritas 36%. Hubungan kekerabatan fenetik menunjukkan kultivar Fortuna F1 berkerabat dekat dengan kultivar Tymoti F1 dan kultivar Betavila F1 tidak membentuk hubungan kekerabatan fenetik karena memiliki karakter kualitatif yang berbeda. Keseragaman fenotip ketiga kultivar tomat diharapkan untuk mengembangkan budidaya tomat melalui persilangan menggunakan karakter fenotipe yang unggul.
MUTASI MISSENSE (P.374PHE/LEU) PADA EKSON 5 GEN MATP, PENYEBAB OCULOCUTANEOUS ALBINISM TIPE 4 (OCA4) DI WONOSOBO, JAWA TENGAH Nur Handayani, Niken Satuti; Sukmawati, Feri; Pratiwi, Rarastoeti
Prosiding Seminar Biologi Vol 8, No 1 (2011): Seminar Nasional VIII Pendidikan Biologi
Publisher : Prodi Pendidikan Biologi FKIP UNS

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Abstract

ABSTRAK Albinisme merupakan kelainan genetik autosomal resesif  berupa gangguan sintesis melanin yang terjadi pada manusia. Albinisme dibagi menjadi dua kelompok besar, yaitu Ocular Albinism (OA) dan Oculocutaneous Albinism (OCA). Berdasarkan gen yang mengalami mutasi, OCA dibedakan menjadi 4 tipe yaitu OCA1, OCA2, OCA3 dan OCA4. OCA4 disebabkan mutasi pada gen MATP. Penelitian yang telah dilakukan dengan PCR-SSCP (Polymerase Chain Reaction-Single Stranded Conformation Polymorphism) mendeteksi adanya mutasi pada ekson 5 gen MATP, pada penderita albinisme di Wonosobo, Jawa Tengah. Sekuensing ekson 5 gen MATP dilakukan untuk mengidentifikasi tipe mutasinya. DNA diisolasi dari sampel darah penderita dan digunakan sebagai template untuk amplifikasi ekson 5 gen MATP dengan metode PCR. Produk PCR selanjutnya digunakan sebagai template untuk sekuensing dengan metode Sanger. Hasil sekuensing dianalisis menggunakan program Clustal-W dan dibandingkan dengan sekuens ekson 5 gen MATP dari International DNA Data Base (nomer akses AF172849.1). Hasil analisis menunjukkan adanya pada perubahan basa nukleotida no.1122 dari C menjadi G (c.1122 C>G) yang mengakibatkan mutasi missense, yaitu fenilalanin menjadi leusin, pada asam amino nomer 374 (p.374 Phe/Leu).   Kata kunci : OCA4, mutasi, ekson 5, gen MATP
ANALISIS KARIOTIPE ULAR TRAWANG (COELOGNATHUS RADIATUS, (BOIE 1827)) Qurniawan, Tony Febri; Arisuryanti, Tuty; Nur Handayani, Niken Satuti
JURNAL BIOLOGI INDONESIA Vol 8, No 2 (2012): JURNAL BIOLOGI INDONESIA
Publisher : Perhimpunan Biologi Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14203/jbi.v8i2.3047

Abstract

Analysis of Radiated Ratsnakes (Coelognathus radiatus, (Boie 1827) Karyotype. Radiatedratsnake is a reptile which has an economic potential an export comodyty. However, there arefew reports on genetic studies of radiated ratsnake. The aim of this research was to examinechromosome characters of the radiated ratsnake collected from Sewon, Bantul, Daerah IstimewaYogyakarta. Chromosome preparation method used was splash using blood culture. The resultsrevealed that the diploid chromosome number (2n) of radiated ratsnake was 30, classified asmetacentric (chromosome pairs number 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, dan 11), submetacentric(chromosome pairs number 12 and 13), and telocentric (chromosome pairs number 14 and 15).Therefore the karyotype formula of radiated ratsnake was 2n = 2x = 30 = 22 m + 4 sm + 4 t. Theresult showed that the shortest of short arm chromosomes was 0 ?m, the longest one was0.665 ± 0.0504 ?m, the shortest of long arm chromosomes was 0.268 ± 0.0011?m, the longestone was 0.746 ± 0.0059 ?m, the shortest of total length chromosomes was 0.27 ± 0.001 ?m, andthe longest of total length chromosomes was 1.41 ± 0.045 ?m. The R value was 5.267 ± 0.15408indicating that radiated ratsnake from Sewon, Bantul, Daerah Istimewa Yogyakarta haschromosome variation size.Keywords: Coelognathus radiatus, blood culture, chromosome character, karyotype