摘要
目的通过鉴定云南省白族、傣族等少数民族中的Ｇ６ＰＤ基因突变型，统计大理市白族Ｇ６ＰＤ缺乏症发生率及基因频率，以了解分子进化和民族起源，并为Ｇ６ＰＤ缺乏症的防治提供理论依据。方法用错配碱基ＰＣＲ／ＲＥ、ＰＣＲ－ＳＳＣＰ、ＡＲＭＳ法和ＤＮＡ序列分析等检测Ｇ６ＰＤ基因点突变。结果经ＤＮＡ序列分析确认，首次在白族人群中发现Ｇ６ＰＤＧ１３８８Ａ，发生率４２％、Ｇ１３７６Ｔ发生率２１％、Ａ９５Ｇ发生率６％；在傣族中发现Ｇ１３８８Ａ，发生率６２％、Ｇ１３７６Ｔ发生率２３％；在哈尼族中发现Ｇ１３８８Ａ１例；在景颇族中发现Ｇ１３８８Ａ１例。用ＰＣＲ／ＲＥ法初步鉴定了１例傣族Ｃ１０２４Ｔ突变型，发生率１．９％。大理市白族Ｇ６ＰＤ缺乏症发生率１．１９％，Ｇ６ＰＤ缺乏症基因频率０．０１１３，与勐腊及德宏傣族相比，Ｐ＜０．０１，差异有显著性。结论（１）Ｇ６ＰＤＧ１３７６Ｔ、Ｇ１３８８Ａ及Ａ９５Ｇ是目前仅在中国人中发现、存在于中国多个少数民族中的基因突变型。提示中华民族中存在比较共同的基因突变，可能起源于共同的祖先；（２）傣族Ｇ６ＰＤ缺乏症发生率高于白族；（３）云南省Ｇ６ＰＤ缺乏症的分布与疟疾流行区一致，这可能是基因组ＤＮＡ长期进化的?
Objective In order to understand the molecular evolution, race origin and the
relationship between the G6PD gene structure and clinical symptoms, the authors identified the
molecular characterization of glucose6phosphate dehydrogenase and determined the G6PD
gene frequency in four ethnic groups in Yunnan province of China. Methods The point
mutations of G6PD were detected by MismatchPCR/RE, SSCP, ARMS, DNA sequence and so on.
G6PD gene frequency was determined by HardyWeinberg Law. ResultsZG6PD G1388A,
G1376T, A95G mutations were determined in Bai and Dai people for the first time and G1388A
also in Harni people by DNA sequence. G6PD C1024T were detected in Dai population by
MismatchPCR/RE. The gene frequency of G6PD in Bai population in Dali city is 00113, and the
incidence is 1.19% which are different from those in Dai population. Conclusion G6PD G1338A,
G1376T, A95G and C1024T are the mutations in national minorities, as well as in the Han
people. The results suggest that different national minorities of China may have the same
ancestor. The incidence of G6PD deficiency and the G6PD gene frequency in Bai population are
different from those in Dai population. The distribution of G6PD deficiency in Yunnan is
associated with the distribution of malaria epidemic in that province.
出处
《中华医学遗传学杂志》
EI
CAS
CSCD
北大核心
1999年第3期149-152,共4页
Chinese Journal of Medical Genetics
基金
国家自然科学基金
