Human Genetics

Focuses are primarily the development of methods for diagnosing genetic diseases as well as neonatal screening for congenital metabolic diseases. The activities of the HGRC cluster are the development of microarrays, Fluorescent In Situ Hybridization (FISH) examinations, gene mutation analysis, and amino acid analysis. Microarray, FISH examinations, and gene mutation analysis were carried out in cases of congenital defects. These facilities enable HGRC to detect copy number variation, uniparental disomy (UPD), and mosaicism, abnormalities in the number and structure of chromosomes and mosaicism

Publication

  • Amino acid profile in patients with thalassemia major analyzed by liquid chromatography-tandem mass spectrometry. (Journal of Physics: Conf. Series 1073 (2018) 032044).
  • A Novel mutation in iduronate-2-sulfatase gene Exon 6 of an Indonesian patient with Mucopolysaccharidosis type II (IOP Conf. Series: Journal of Physics: Conf. Series 1073 (2018) 032051).
  • A novel silent mutation at exon 9 of iduronate-2-sulfatase gene in an Indonesian patient with mucopolysaccharidosis type II (IOP Conf. Series: Journal of Physics: Conf. Series 1073 (2018) 032069).
  • Comparison of Neonatal Thyroid Stimulating Hormone Reference Value in Indonesia According to Age and Gender Differences. (4th International Conference on Public Health 2018, Bangkok, Thailand).
  • Identification of novel variation in introns three and four of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (IOP Conf. Series: Journal of Physics: Conf. Series 1073 (2018) 032073).
  • Liquid chromatography-tandem mass spectrometric analyses of the amino acid profiles of normal and malnourished children treated at Cipto Mangunkusumo Hospital. (Journal of Physics: Conf. Series 1073 (2018) 032045).
  • Mutational analysis of exon 4 of the 6-pyruvoyltetrahydropterin synthase gene in an Indonesian population (IOP Conf. Series: Journal of Physics: Conf. Series 1073 (2018) 032072).
  • Neonatal Thyroid Stimulating Hormone Level and Its Association with Birth Weight Status. (4th International Conference on Public Health 2018, Bangkok, Thailand).
  • Neonatal Thyroid Stimulating Hormone Level and Its Association with Prematurity Status. (4th International Conference on Public Health 2018, Bangkok, Thailand).
  • Neonatal Thyroid Stimulating Hormone Status Based on Maternal Adequate Iodized Salt Intake Status in Indonesia. (4th International Conference on Public Health 2018, Bangkok, Thailand).
  • Novel variations in Exon 4 of the iduronate 2-sulfatase gene in six Indonesian patients with mucopolysaccharidosis type II (IOP Conf. Series: Journal of Physics: Conf. Series 1073 (2018) 032070).
  • Variations on exon 3 of 6-pyruvoyl-tetrahydropterin synthase gene in Indonesian population (IOP Conf. Series: Journal of Physics: Conf. Series 1073 (2018) 032071).
  • Genetics and Genomic Medicine in Indonesia. (Molecular Genetics and Genomic Medicine, 2017 Mar;5(2):103-109).
  • National Newborn Screening Program for a Better Indonesia. (13th International Congress of Inborn Errors of Metabolism (ICIEM 2017), Rio De Janeiro, Brazil).
  • Study Protocol to Investigate the Environmental and Genetic Aetiology of Atopic Dermatitis the Indonesian Prospective Study of topic Dermatitis in Infant. (BMJ open 2017;7:e012475.doi:10.1136/bmjopen-2016-012475).
  • Loss of heterozigosity in multiple congenital anomaly patients. (Ann Transl Med. 2015 Sep; 3(Suppl 2): AB170.).
  • The role of lipoprotein E polymorphism in dyslipidemic obese adolescents of physical exercise and National Cholesterol Education Program step II. (Ann.Transl.Med.2015,;3(suppl2):AB106.doi:10.3978/j.issn2305-5839.2015AB106).
  • Diagnostic Approach to the Child with Multiple Congenital Anomalies. (European Pediatric Associating meeting, 2014)

Collaboration

Organization