Distribusi Polimorfisme Plasminogen Activator Inhibitor 1 (PAl-i) pada Etnis Jawa dan Etnis Ternate

Tahun 2004 Volume 39 Nomor 3
Oleh : Sultana MH. Faradz Shyrien Amalina

Latar belakang: Gen Plasminogen Activator Inhibitor I (PAl- I) yang terletak pada lengan panjang kromosom 7 regio 21,3-22, memiliki polimorfisme insersi (GGGGG) /delesi (GGGG) pada daerah promoter awal transkipsi basa ke-675. Pada individu dengan alel G4 homozigot memiliki konsentrasi basal PAI-I yang lebih tinggi dan lebih mudah terinduksi untuk mengalami peningkatan konsentrasi PAl- I plasma daripada individu yang memiliki ale! G5 homozigot ataupun alel heterozigot G4/G5 . Tingginya kadar PAI-I dalam plasma berhubungan dengan penyakit penyakit tertentu, antara lain. infark miokard, dislipoproteinemia, multiple-vessel coronary artery, deep-vein thrombosis dan syok septik. Tujuan penelitian untuk mengetahui distribusi polimorfisme gen PAI-I  pada etnis Jawa dan Ternate, dan kedua etnis masih dalam equilibrium Hardy-Weinberg.
Metoda: Desain penelitian ini menggunakan metode deskript Delapan puluh sampel DNA, yaitu 40 sampe! etnis Jawa dan 40 sampe! etnis Ternate, diambil dan koleksi DNA Unit sitogonetika & genetika molekuler Laboraturium Sitogenetika-Biotekno!ogi Fakultas Kedokteran UNDIP, Semarang. Penggandaan DNA menggunakan teknik PCR (Polymerase Chain Reaction) pada daerah promoter untuk mendapalkan produk sebesar 164/165 bp. Kemudian dipotong menggunakan enzim restriksi Bs! I. Fragmen yang dihasilkan dideteksi menggunakan gel polyacnilamide elektroforesis.
Hasil: Dan data etnis Jawa didapatkan 10 sampel G4/G4, 18 sampel G4/G5, dan 12 sampel G5/G5, sedangkan untuk etnis Ternate 7 sampel G4/G4, 21 sampel G4/G5, dan 12 sampel G5/G5. Uji Chi-square menun/ukkan tidak ada perbedaan bermakna (p> 0,05) antara kedua etnis tersebut.

Background: Plasminogen Activator Inhibitor 1 (PAl-I) gene, localized to q2 1, 3-q22 of chromosome 7, has a single base-pair insertion(GGGGG)/deletion(GGGG) polymorphism at 675 base pairs of the promoter region near the transcription site. Homozygous individual for the 4G allele have higher basal and inducible concentration of plasma PA/-I than those with 5G allele homozygous or 4G/5G allele helerozygous. Elevated plasma concentration of PA I-I activity was associated with myocardial infarction, dyslipoproteinemia, multiple-vessel coronary artery disease deep-vein thrombosis and septic shock. Objectives of this study was to determine the distributions of polymorphism PAl-I gene in Javanese and Ternale trait and their Hardy-Weinberg equilibrium.
Method: This study was a descriptive observational. The total DNA samples were 80, which were 40 DNA samples from Javanese trait and 40 DNA samples from Ternate trait. All samples were taken from DNA collection of Cytogenetic and Molecular Genetic Unit of ‘Medical Biotechnology Laboratory Medical Faculty Diponegoro University, Semarang. PCR techniques were used to amplify 164/165 bp of promoter region PA!- I gene. The PCR products were cut using BsI I restriction enzyme. Fragments were visualized using polyacry/amide gel electrophoresis and staining with silver.
Results: Javanese trait showed 10 samples 4G/4G, 18 samples 4G/5G and 12 samples 5G/5G. Ternate trait showed 7 samples 4G/4G, 21 samples 4G/5G and 12 samples 5G/5G. Chi-square test showed homozygous 4G, homozygous
5G and heterozygous 4G/5G in Javanese trait did not sign d with those from Ternate trait p> 0.05. fly Hardy- Weinberg principle and using t-test shows no sign fIcantly differ (p<O. 05)
Conclusion: Distribution of Polymorphism PA I-/gene in Javanese and Ternate trait shows no sign differ. Both of traits in the equilibrium of Hardy-Weinberg. Analysis using other fibrinolysis markers should be done for further study.