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Please use this identifier to cite or link to this item: https://repository.uksw.edu/handle/123456789/22108
Title: Perbandingan Frekuensi SNP rs11942223 Gen SLC2A9 pada Suku Jawa dan Minahasa
Authors: Prasetyaningrum, Nugraheni Wilis
Keywords: SLC2A9;SNP rs11942223;asam urat
Issue Date: Dec-2021
Abstract: SLC2A9 (solute carrier family 2 member 9) adalah protein yang bertindak sebagai pengangkut asam urat di ginjal dan menyerap kembali kedalam sistem peredaran darah. SLC2A9 paling banyak terekspresi di ginjal, hati, dan plasenta. Adanya mutasi pada SLC2A9 dapat menyebabkan gangguan asam urat dan beberapa sindrom metabolik. SLC2A9 memiliki beberapa SNP antara lain rs11942223, rs7442295, dan V2531. rs11942223 yang terletak pada kromosom 4 dengan alel T > C memiliki pengaruh paling kuat terhadap pewarisan genetik dan kerentanan terhadap tingginya kadar asam urat pada suku di wilayah near Oceania. Salah satu suku near Oceania adalah suku yang berada di Indonesia, yaitu ras Mongolid penutur Austronesia. Namun, pada suku Jawa terjadi gene flow dari Austroasiatica yang bermigrasi dari barat. Tujuan dari penelitian ini adalah untuk mengetahui perbandingan frekuensi rs11942223 pada suku Jawa dan suku Minahasa. Metode untuk mengidentifikasi SNP rs11942223 menggunakan Taqman SNP Genotyping Assay. Hasil menunjukkan bahwa terdapat perbedaan frekuensi genotipe dan alel antara suku Jawa dan Minahasa (p-value = 0,004). Homozigot T/T merupakan genotipe yang dominan pada kedua suku. Heterozigot C/T lebih banyak ditemukan di suku Jawa (11,6%, n=95) dibandingkan pada suku Minahasa (1,1%, n=91). Alel T merupakan risk allele yang berpotensi untuk meningkatkan kadar asam urat, dan lebih banyak ditemukan pada suku Minahasa (99,5%, n=91) dibandingkan pada suku Jawa (94%, n=95). Perbedaan yang terjadi pada kedua suku terjadi karena terjadinya gene flow pada suku Jawa akibat migrasi dari bangsa selain Austronesia.
SLC2A9 (solute carrier family 2 member 9) is a protein that acts as a carrier of uric acid in the kidneys and reabsorbes into the circulatory system. SLC2A9 is most widely expressed in the kidneys, liver, and placenta. The presence of mutations in SLC2A9 can cause gout disorders and some metabolic syndromes. SLC2A9 has several SNPs including rs11942223, rs7442295, and V2531. rs11942223 located on chromosome 4 with the T allele > C has the strongest influence on genetic inheritance and susceptibility to high uric acid levels in tribes in the region near Oceania. One of the tribes near Oceania is a tribe located in Indonesia, namely the Mongolid race of Austronesian speakers. However, in the Javanese there was gene flow from Austroasiatica which migrated from the west. The purpose of this study was to find out the ratio of the frequency of rs11942223 in the Javanese and Minahasa tribes. The method for identifying the SNP rs11942223 uses the Taqman SNP Genotyping Assay. The results showed that there was a difference in genotype and allele frequencies between the Javanese and Minahasa (p-value = 0.004). Homozygous T/T is the dominant genotype in both tribes. Heterozygous C/T is more common in Javanese (11.6%, n=95) than in Minahasa (1.1%, n=91). Allele T is a risk allele that has the potential to increase uric acid levels, and is more commonly found in the Minahasa tribe (99.5%, n = 91) than in the Javanese (94%, n = 95). Differences that occur in both tribes occur due to the occurrence of gene flow in Javanese due to migration from nations other than Austronesia.
URI: https://repository.uksw.edu/handle/123456789/22108
Appears in Collections:T1 - Nutrition Science

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