Molecular study in G6PD deficiency, a pedigree analysis of a javanese-chinese family in surabaya, indonesia.  

Oleh:

Suhartati ; Martini, Tri ; Soewono, Imam ; Shirakawa, Taku ; Nishiyama, K.

Jenis: Article from Journal - ilmiah nasional - tidak terakreditasi DIKTI
Dalam koleksi: Jurnal Kedokteran YARSI vol. 10 no. 01 (Jan. 2002), page 30.
Topik: G6PD Deficiency; Pedigree; G6PD Kaiping; PCR (MPTP)

Ketersediaan

Perpustakaan PKPM Nomor Panggil: J51 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

A pedigree analysis has been performed on a Javanese-Chinese family in Surabaya. Two sons in the family are G6PD deficient and molecular study showed that they are G6PD Kaiping (nt. 1338 G -> A). Genetic analysis was carried out using MPTP (Multiplex PCR using multiple Tandem forward primers 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 also found to be normal.

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