Search

The fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the cytosine-guanine-guanine (CGG) repeat in the fragile X mental retardation 1 (FMR1) gene located on the X chromosome. Antibody tests have been developed to identify fragile X patients, based on the presence or absence of fragile mental retardation protein (FMRP) in both lymphocytes and hair roots. The objective of this study was to compare correlations of hair root and lymphocyte FMRP expression with cognitive functioning in female rural area probands carrying the full mutation. Thirty females (normal, premutation, or full mutation) were selected from Indonesian fragile X families and were tested for FMRP expression in lymphocytes and hair roots using the FMRP antibody test. Subject genotype was determined by Southern blot analysis, and IQ equivalent by Raven’s Standard Progressive Matrices. Statistical analysis was by Pearson correlation. FMRP expression in blood lymphocytes was relatively higher than that in hair roots, but hair root FMRP expression was strongly correlated with cognitive functioning in female full mutation carriers (r=0.64, p=0.015), whereas no significant correlation between lymphocyte FMRP and cognitive functioning was found (r=0.31, p= 0.281). Around 14% of subjects had a normal and 7% a borderline IQ level, while 79% had mild mental impairment. In conclusion, hair root FMRP expression may be a useful marker for identification of fragile X full mutation females.

The fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the cytosine-guanine-guanine (CGG) repeat in the fragile X mental retardation 1 (FMR1) gene located on the X chromosome. Antibody tests have been developed to identify fragile X patients, based on the presence or absence of fragile mental retardation protein (FMRP) in both lymphocytes and hair roots. The objective of this study was to compare correlations of hair root and lymphocyte FMRP expression with cognitive functioning in female rural area probands carrying the full mutation. Thirty females (normal, premutation, or full mutation) were selected from Indonesian fragile X families and were tested for FMRP expression in lymphocytes and hair roots using the FMRP antibody test. Subject genotype was determined by Southern blot analysis, and IQ equivalent by Raven’s Standard Progressive Matrices. Statistical analysis was by Pearson correlation. FMRP expression in blood lymphocytes was relatively higher than that in hair roots, but hair root FMRP expression was strongly correlated with cognitive functioning in female full mutation carriers (r=0.64, p=0.015), whereas no significant correlation between lymphocyte FMRP and cognitive functioning was found (r=0.31, p= 0.281). Around 14% of subjects had a normal and 7% a borderline IQ level, while 79% had mild mental impairment. In conclusion, hair root FMRP expression may be a useful marker for identification of fragile X full mutation females.

ABSTRAK Ruang terbuka publik di kawasan kampus itenas terbentuk dari pola tatanan massa yang dapat bersifat katalisator bagi perkembangan interaksi dan komunitas civitas akademika.. Interaksi antar civitas akademika dapat terjadi karena kenyamanan beraktifitas. Ruang yang responsif terhadap aktifitas memiliki kriteria, salah satunya dalam kenyamanan spatial. Penelitian ini bertujuan untuk mengidentifikasi kenyamanan spatial di ruang terbuka publik itenas. Pendekatan penelitian menggunakan metoda kualitatif dengan pengambilan data melalui observasi, kuesioner dan dokumentasi di periode waktu tertentu. Metoda analisis menggunakan metoda deskriptif. Hasil penelitian teridentifikasi hanya beberapa tempat yang menjadi titik kumpul mahasiswa dengan kenyamanan spatial tercapai dengan alasan tempat tersebut masuk kategori area teduh dan nyaman. Walaupun dari sisi elemen publik space di beberapa tempat belum terlengkapi namun mahasiswa dapat menggunakan elemen lain untuk mendukung aktifitasnya. Kata kunci: Sustainable Site, ruang terbuka publik kampus, kenyamanan spasial, Itenas. ABSTRACT Public open space in the campus area is formed from the pattern of building order that can be a catalyst for the development of interaction and community academic community. Interaction among academic community can occur because of the convenience of activity. Space that is responsive to activity has criteria, one of which is in spatial comfort. This study aims to identify the spatial comfort in public space itenas. The research approach uses qualitative method with data retrieval through observation, questionnaire and documentation in certain time period. The method of analysis using descriptive method. The results of the study identified only a few places that became a student gathering point with the spatial comfort is achieved by reason of the place into the category of shady areas and comfortable. Although in terms of elements of public space in some places have not been completed but students can use other elements to support theirs activities. Keywords: Sustainable Site, Public open space in campus, spatial comfort, Itenas.