DETECTION　OF　POINT　MUTATIONS　IN　EXON　2　OF　THE　G6PD　GENE　IN　CHINESE　G6PD　VARIANT

许卫明; 王菁; 华小云; 杜传书

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DETECTION　OF　POINT　MUTATIONS　IN　EXON　2　OF　THE　G6PD　GENE　IN　CHINESE　G6PD　VARIANT

中国医学科学杂志（英文版） 1994年第1期

Updated：2024-04-10

- DETECTION　OF　POINT　MUTATIONS　IN　EXON　2　OF　THE　G6PD　GENE　IN　CHINESE　G6PD　VARIANT
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  中图分类号： R363
- 纸质出版日期：1994
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[1]许卫明,王菁,华小云,杜传书.DETECTION　OF　POINT　MUTATIONS　IN　EXON　2　OF　THE　G6PD　GENE　IN　CHINESE　G6PD　VARIANT[J].Chinese Medical Sciences Journal,1994(01):20-23.

DETECTION OF POINT MUTATIONS IN EXON 2 OF THE G6PD GENE IN CHINESE G6PD VARIANT[J]. Chinese medical sciences journal, 1994, (1).
[1]许卫明,王菁,华小云,杜传书.DETECTION　OF　POINT　MUTATIONS　IN　EXON　2　OF　THE　G6PD　GENE　IN　CHINESE　G6PD　VARIANT[J].Chinese Medical Sciences Journal,1994(01):20-23. DOI：

DETECTION OF POINT MUTATIONS IN EXON 2 OF THE G6PD GENE IN CHINESE G6PD VARIANT[J]. Chinese medical sciences journal, 1994, (1). DOI：

摘要

ＤＥＴＥＣＴＩＯＮＯＦＰＯＩＮＴＭＵＴＡＴＩＯＮＳＩＮＥＸＯＮ２ＯＦＴＨＥＧ６ＰＤＧＥＮＥＩＮＣＨＩＮＥＳＥＧ６ＰＤＶＡＲＩＡＮＴＸｕＷｅｉｍｉｎｇ；（许卫明）ＷａｎｇＪｉｎｇ；（王菁）ＨｕａＸｉａｏｙｕｎ（华小云）ａｎｄＤｕＣｈｕａｎｓｈｕ(杜传书...

Abstract

In the past few years. a total of 6 different mutations of the G6PD gene have been reported in china. One of these

the C6 mutation （A￣（95）→G）. accounted for about 1 5. 4 % of the Chinese G6PD variants. In ordet to develop a strategy for rapid detection of mutation-containing exons of the G6PD gene. we applied the single-strand conformation polymorphism （SSCP） technique to the detection of mutations in exon 2 of this gene. We observed four patients with abnormal migration patterns of the exon 2 bend among 20 cases of G6PD variants. Direct PCR sequencing confirmed a T to C substitution in exon 2 that has previously been reported. This procedure is therefore of particular importance for the rapid detection of mutation-containing exons in the G6PD gene.

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