[Linkage analysis of the G6PD gene mutations and its Nla III polymorphic site].

OBJECTIVE

To investigate the molecular and anthropologic features of glucose-6-phosphate dehydrogenase (G6PD) deficiency and the linkage between the Nla III polymorphic site within G6PD gene and three common Chinese G6PD mutations.

METHODS

By using denatured gradient gel electrophoresis (DGGE) and allele specific oligonucleotide (ASO) probe dot blot hybridization, Nla III polymorphic site at minus sign13 bp upstream exon 12 within G6PD gene were screened in 54 males with normal G6PD activity and 66 G6PD deficient males.

RESULTS

Thirty-two cases with cDNA1376 (G-->T), 21 with cDNA1388 (G-->A) and 13 with cDNA95 (A-->G) were detected in the 66 G6PD deficient males. Among 54 normal controls, T at -13 bp upstream exon 12 within G6PD gene were detected in 11 cases (20.4%, without Nla III polymorphic sites) while C in 43 cases (79.6%, with Nla III polymorphic sites). All 66 G6PD deficient males were linked with C at -13 bp upstream exon 12 (with Nla III polymorphic sites).

CONCLUSION

The G6PD mutations cDNA1376 (G-->T), cDNA1388 (G-->A) and cDNA95 (A-->G) were linked with Nla III polymorphism. This feature will play a role in studying the complicated manifestations and anthropology of G6PD deficiency.