[Glucose-6-phosphate dehydrogenase gene mutations in She nationality, Fujian province]

To analyze the genotypes of glucose-6-phosphate dehydrogenase (G6PD) gene mutations, and investigate the incidence of G6PD deficiency and gene frequency in She Nationality (SN) in Fujian province.

G6PD deficiency was screened by NBT method, G6PD mutations identified by amplification refractory mutation system (ARMS), mismatch-PCR with a restriction endonuclease, PCR-SSCP and DNA sequencing.

Among 1820 Qingshui SN and 764 Muyun SN, 101 and 104 samples were found to be abnormal, and the G6PD gene frequency accounted for 0.0607 and 0.1706 respectively. Among 54 pure ethnic descent SN samples in Muyun SN, 38 were identified as 1376G-->T, 10 as 1388G --> A and 6 as 95A-->G. The frequencies were 70.3%, 18.5% and 11.1% respectively. One case with both 1388G-->A and 95A-->G and another case with both 1376G-->T and 1388G-->A. Six 1024C-->T and one 392G -->T in Qingshui SN were identified.

(1)G6PD nt1376G-->T and G6PD nt1388G-->A are two main variants in Muyun SN. Chinese ethnic groups share the similar G6PD gene variants, suggesting originated from the same ancestor. (2) 5 variants are found in SN: G6PD nt1376G-->T, nt1388G-->A, nt95A-->G, nt1024C-->T and nt392G-->T. (3) One with both nt1376G-->T and nt95A-->G mutations, another with both nt1376G-->T and nt1388G-->A mutations were found in SN. (4) nt95A-->G is another common G6PD gene variant in Muyun SN; nt1024C-->T is a common G6PD gene variant in Qingshui SN. (5)The gene frequency of G6PD in Qingshui SN is 0.0607, and is 0. 1706 in Muyun SN, these would facilitate the policy decision of C6PD deficiency prevention and treatment in these areas.