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Dokumen Artikel Penelitian ini milik penulis/penelliti yang diserahkan sebagian (judul dan Abstrak) hak ciptanya

kepada Universitas Airlangga untuk digunakan referensi dalam penulisan artikel ilmiah. Penulis : SUHARTATI Fakultas : Kedokteran Tim Peneliti :

Molecular study in GSFD defieiency, a pedigree analysis of a Javanese-chinese family in surabaya, Indonesia
Abstrak :

Molecular study in GSFD defieiency, a pedigree analysis of a Javanese-chinese family in surabaya, Indonesia Suhartati1, Tri Martini1,Imam soewono2, Taku shirakawa2, KaoruNishiyama3 Th 2002 1Tropical Disease Center (TDC), Departement of Biochemistry, Airlangga University School of Medicine Surabaya 2Departement of internal Medicine , Hang Tuah University School of Medicine 3Faculty of Health Science Kobe University School of Medicine, Tomogaoka, Suma-ku, Kobe 654-01 Japan

KEYWORDS G6PD deficiency, pedigree, G6PD Kaiping, PCR (MPTP)

ABSTRACT A pedigree analysis has performed on a Javanese-Chinese family in Surabaya. Two sons in the family are G6PD dificient and rnolecular study showed that they are G6PD Kaiping (nt. 1338 G -> A). Genetic analysis was carried out using MPTP (Multiplex PCR using multiple Tandem forward pimers and common reverse Primer). We identified that their mother also has Kaiping mutation, while the father is normal. The mother and grandmother of the mother are also found to be normal. Keyword : G6PD defient, RPL and G6PD gene mutation

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