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ZHOU Ai-qin, YU Jin-ping, SHI Shu-hua, . Analysis on PAH gene of PKU patients in Shenzhen city[J]. Chinese Journal of Public Health, 2003, 19(11): 1329-1330.
Citation: ZHOU Ai-qin, YU Jin-ping, SHI Shu-hua, . Analysis on PAH gene of PKU patients in Shenzhen city[J]. Chinese Journal of Public Health, 2003, 19(11): 1329-1330.

Analysis on PAH gene of PKU patients in Shenzhen city

  •   Objective   To detect PAH gene point mutation of phenylalanine hydroxylase of PKU patients in Shenzhen city.
      Methods   Using 7 pairs of primers, thirteen members from 3 families were analyzed by using PCR-SSCP and silver staining.
      Results   Of the 3 families, point mutations were found in only 2 families, one located on intron 10, the other located on intron 11.
      Conclusion   The DNA point mutations may be single nucleotide polylnorphism sites.
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