Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2000
[1376G-->T mutation of G6PD gene in Han and Li nationalities in Hainan, China].
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Cai W, Cai L, Zhou D, Kuang Y, Zhou Y, Stefania F, Giuseppe M
Аннотация
OBJECTIVE: To investigate the 1376G-->T mutation of G6PD gene in the cases of G6PD deficiency in the Han nationality and the Li nationality of Hainan, China.
METHODS: DNAs were extracted from the white blood cells of G6PD deficient cases by salt-out method. Allelic specific polymerase chain reaction was used to detect the 1376G-->T mutation.
RESULTS: Fifty-nine Han nationality cases and 32 Li nationality cases were analysed; the 1376G-->T mutation was found in 19 Han cases(32.2%) and 18 Li cases(56.2%).
CONCLUSION: 1376G-->T is a common mutation which causes G6PD deficiency in the Han nationality and the Li nationality in Hainan, China. Based on the phylogenetic tree of populations in China, these results indicate that the mutation might occur prior to the divergence of the Han and Li nationalities. It is of significance to study the mutations of G6PD gene in different nationalities in China for elucidating the origin, migration and evolution of the nationalities.
METHODS: DNAs were extracted from the white blood cells of G6PD deficient cases by salt-out method. Allelic specific polymerase chain reaction was used to detect the 1376G-->T mutation.
RESULTS: Fifty-nine Han nationality cases and 32 Li nationality cases were analysed; the 1376G-->T mutation was found in 19 Han cases(32.2%) and 18 Li cases(56.2%).
CONCLUSION: 1376G-->T is a common mutation which causes G6PD deficiency in the Han nationality and the Li nationality in Hainan, China. Based on the phylogenetic tree of populations in China, these results indicate that the mutation might occur prior to the divergence of the Han and Li nationalities. It is of significance to study the mutations of G6PD gene in different nationalities in China for elucidating the origin, migration and evolution of the nationalities.