Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene.
作者： Kozo Nishiyama , Tsuneyoshi Funai , Ritsuko Katafuchi , Fumitada Hattori , Kaoru Onoyama
DOI: 10.1016/0006-291X(91)90396-O
关键词:
摘要: cDNA clones for serine:pyruvate aminotransferase (SPT, alternative name: alanine:glyoxylate aminotransferase) were obtained from a library constructed the liver of primary hyperoxaluria type I (PH1) case in which SPT activity was approximately one-hundredth that control liver. Six isolated 100,000 transformants and all them contained an 1.5 kbp insert included whole coding region human SPT. Nucleotide sequence analysis revealed point mutation T to C at position 634 (relative 5'-end cDNA) encoding Ser Pro substitution residue 205. The conversion created new SmaI site, enabled us demonstrate had occurred patient's gene. digestion genomic DNA may be useful diagnostic gene this PH1.
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