Identifikasi Penyebab Retardasi Mental Siswa SLB Melalui Analisis Sitogenetik dan PCR

Authors

  • Retno Dwi W Bagian Biomedik Penelitian Biomolekuler Fakultas Kedokteran Universitas Wijaya Kusuma Surabaya
  • Eva Diah S Bagian Biomedik Penelitian Biomolekuler Fakultas Kedokteran Universitas Wijaya Kusuma Surabaya
  • Putu Oky AT Bagian Biomedik Penelitian Biomolekuler Fakultas Kedokteran Universitas Wijaya Kusuma Surabaya

DOI:

https://doi.org/10.21776/ub.jkb.2016.029.01.16

Keywords:

gen FMR1, kromosom, retardasi mental

Abstract

Retardasi mental dapat disebabkan oleh faktor genetik yaitu kelainan kromosom atau gen tunggal. Penelitian ini bertujuan untuk mengetahui penyebab kelainan genetik pada anak-anak dengan retardasi mental. Sampel penelitian adalah 18 siswa SLB Pelita Hati diambil 14 yang memenuhi kriteria inklusi. Sampel diambil dari darah tepi untuk dilakukan analisis kromosom dan PCR untuk melihat pemanjangan pengulangan CGG pada gen FMR1. Dari 14 siswa yang terlibat di dalam penelitian, 10 siswa menjalani analisis kromosom dan dilanjutkan dengan analisis PCR, 2 siswa hanya menjalani analisis kromosom dan 2 siswa hanya menjalani analisis PCR. Hasil analisis kromosom pada 12 siswa, didapatkan satu siswa dengan trisomi 21 (47,XX,+21), satu siswa dengan trisomi X (47,XXX) dan yang lain memiliki karyotip normal (46,XY atau 46,XX). Pada pemeriksaan PCR, tidak ditemukan siswa dengan pemanjangan pengulangan CGG.

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Published

2016-01-29

Issue

Vol. 29 No. 1 (2016)

Section

Research Article

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