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All Journal MEDIA MEDIKA INDONESIANA Journal of Nutrition and Health Jurnal Psikologi Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Jurnal Keperawatan Anak Indonesian Journal of Urology Journal of Biomedicine and Translational Research Universa Medicina Paediatrica Indonesiana Bioscientia Medicina : Journal of Biomedicine and Translational Research Bioscientia Medicina : Journal of Biomedicine and Translational Research
Sultana MH Faradz
Division Of Human Genetics, Center For Biomedical Research, Faculty Of Medicine Diponegoro University
Biochemistry, Genetics & Molecular Biology Health Professions Immunology & microbiology Medicine & Pharmacology Neuroscience Nursing Public Health Social Sciences

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Journal : Universa Medicina

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Hair root FMRP expression for screening of fragile X full mutation females Rujito, Lantip; Kustiani, Dwi; Severijnen, Lies Anne; Hanzon, Peter; Faradz, Sultana MH; Willemsen, Rob
Universa Medicina Vol 30, No 1 (2011)
Publisher : Faculty of Medicine, Trisakti University

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.18051/UnivMed.2011.v30.11-21

Abstract

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.
Co-Authors A, Mahayu Dewi Achmad Zulfa Juniarto Agustini Utari Aisha Balkhar Ali Amir, Mentari Ani Melani Maskoen Annastasia Ediati Ardy Santosa Ardy Santosa Ardy Santosa Aulia, Siti Farhanah Baharudin Baharudin Banundari Rachmawati Ben CJ Hamel Bregje WM van Bon Bremmy Laksono Ching Leng Kee Costrie G. W Daldiyono Hardjodisatro, Daldiyono Darmono Dik Puspasari Donna Hermawati Dwi Kustiani, Dwi Eddy Sudijanto, Eddy Fanti Saktini Farmaditya EF Mundhofir, Farmaditya EF Farmaditya EP Mundhofir Farmaditya EP Mundhofir Farmaditya EP Mundhofir Fatinah Shahab Ferdy Kurniawan Cayami Hardhono Susanto Hary Tjahjanto Helger G Yntema Hery D Purnomo, Hery D Hery Djagat Purnomo Inu Mulyantoro Inu Mulyantoro Jessica Juan Pramudita Kasno Kasno Lantip Rujito Lies Anne Severijnen, Lies Anne M. Besari Adi Pramono, M. Besari Adi Mahayu Dewi Ariani Maria Belladonna Rahmawati Martina Ruiterkamp-Versteeg Muhammad Hussein Gasem Nani Maharani Ni Made Indri Dwi Susanti Niken Safitri Dyan Kusumaningrum Noor Pramono Nur Farhanah Nurin Aisyiyah Listyasari Nurin Aisyiyah Listyasari Nurin Aisyiyah Listyasari Nydia Rena Benita Sihombing Nydia Rena Benita Sihombing Octaviani Indrasari Ranakusuma Peter Hanzon, Peter R Djokomoeljanto1, R Rahajeng N Tunjungputri Rahman Jamal Rayvita AN Meagratia Rita Indriyati Rob Willemsen, Rob Santosa Santosa Sue-Mian Then Suhartono Syarief Taufik Tan Yue Ming Tri I Winarni Tri Indah Winarni Udin Bahrudin Vikawati, Nura Eky W, Costrie G. Willy M Nillesen Wiwik Lestari Ziske Maritska