(Studi kasus pada siswa pusat rehabilitasi siswa Bina Grahita Temanggung)

Himawan AB1), Akhmad Zulfa Juniarto2)

ABSTRACT

Background: Fragile X syndrome is the main cause of the inherited mental retardation marked with fragility in the edge of chromosome X long arm. It is occurred when someone does not produce Fragile Mental Retardation Protein (FMRP). Recently there is a new method to diagnose fragile X patient by immunocytochemistry method on the blood smear based on antigen-antibody reaction to FMRP.
Methods: The samples were selected from the students in PRSBG Kartini Temanggung with the exclusion criteria; Down syndrome, multiple malformation and deaf-muteness students. This test was based on the presence of FMRP in normal sample. FMRP was decreased in cells from patients with fragile X syndrome. In this test we observed lymphocytes on blood smear. FMRP can be detected in the cytoplasm.
Results: The result shows that two samples were positive fragile X syndrome and the other 36 samples were negative.
Conclusion: The frequency of students with fragile X syndrome in this study was 5,40%.

Key Words: FMRP, Fragile X-syndrome, Immunocytochemystry methods

ABSTRAK

Latar belakang: Sindrom fragile X merupakan penyebab utama penyakit retardasi mental yang ditandai dengan kerapuhan di ujung akhir lengan panjang kromosom X. Sindroma ini muncul jika orang tersebut tidak memproduksi FMRP (Fragile X Mental Retardation Protein). Akhir-akhir ini telah dikembangkan metode baru untuk identifikasi pasien fragile X dengan menggunakan metode imunositokimia pada preparat darah hapus. Teknik immunositokimia didasarkan pada reaksi antigen-antibodi terhadap FMRP.
Metode: Sampel penelitian dipilih dari penderita retardasi mental di PRSBG (Pusat rehabilitasi Sosial Bina Grahita) Kartini, Temanggung dengan kriteria eksklusi; penderita sindrom Down, penderita malformasi multipel dan kelainan bisu tuli. Penurunan protein FMRP menjadi petunjuk adanya abnormalitas, dan dideteksi dengan adanya warna merah coklat pada sitoplasma limfosit.
Hasil: Diperoleh dua sampel positif penderita sindrom fragile-X dan 36 sampel negatif.
Kesimpulan: Frekuensi penderita sindrom fragile X pada penelitian ini sebesar 5,40%.

Kata Kunci: FMRP, Sindrom fragile X, Metode imunositokimia

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