首都医科大学学报 ›› 2001, Vol. 22 ›› Issue (2): 113-115.

• 论著 • 上一篇    下一篇

儿茶酚胺氧位甲基转移酶基因多态性研究

高清玲, 邵明, 李勇杰, 陈彪   

  1. 首都医科大学宣武医院北京功能神经外科研究所
  • 收稿日期:2000-05-16 修回日期:1900-01-01 出版日期:2001-04-15 发布日期:2001-04-15

Catechol-O-methyltransferase Gene Polymorphisms in Chinese Han Nationality

Gao Qingling, Shao Ming, Li Yongjie, Chen Biao   

  1. Xuanwu Hospital, Beijing Institute of Functional Neurosurgery, Affiliate of Capital University of Medical Sciences
  • Received:2000-05-16 Revised:1900-01-01 Online:2001-04-15 Published:2001-04-15

摘要: 为分析中国汉族人儿茶酚胺氧位甲基转移酶(COMT)基因多态性,用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术分析了53名正常中国汉族人COMT基因1947位点的多态性;并对NIaⅢ内切酶酶切后有异常带出现的标本PCR产物直接进行序列分析.发现中国汉族人COMT基因的A1947位点的频率为0.28;基因型G/G、G/A与A/A的频率分别为0.51,0.42和0.07;并发现了C1883/G和G1966/T2个多态性位点.

关键词: 儿茶酚胺氧位甲基转移酶, 基因, 多态性, 聚合酶链反应

Abstract: The polymorphism of G/A 1947 in exon 4 of COMT gene was analyzed in a population of 53 randomly selected Chinese individuals by polymerase chain reaction restriction fragment length polymorphism(PCR-RFLP). The frequency of A allele was 0.28. The index of homozygous G/G、G/A and A/A were 0.51, 0.42 and 0.07 respectively. The C1883/G and G1966/T polymorphism were found in a Chinese by genetic analyzer technique.

Key words: catechol-O-methyltransferase, gene, polymorphism, polymerase chain reaction

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