HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) Data Supplements Submit an electronic Letter to the Editor about this paper Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via ISI Web of Science (2) Citing Articles via Google Scholar Google Scholar Articles by Wu, G. Articles by Xu, X.-M. Search for Related Content PubMed PubMed Citation Articles by Wu, G. Articles by Xu, X.-M. Related Collections Molecular Diagnostics and Genetics

Rapid, Simultaneous Genotyping of 10 Southeast Asian Glucose-6-Phosphate Dehydrogenase Deficiency–Causing Mutations and a Silent Polymorphism by Multiplex Primer Extension/Denaturing HPLC Assay

¹ Transgenomic, Inc., Omaha, NE;² Department of Medical Genetics, Southern Medical University, Guangzhou, Guangdong, Peoples Republic of China;³ Liugzhou Maternal and Neonatal Hospital, Liuzhou, Guangxi, Peoples Republic of China;⁴ Guangzhou Maternal and Neonatal Hospital, Guangzhou, Guangdong, Peoples Republic of China;

^aaddress correspondence to this author at: Department of Medical Genetics, Southern Medical University (Formerly: First Military Medical University), Tonghe 510515, Guangzhou, Guangdong, Peoples Republic of China; fax 86-020-87278766, e-mail gzxuxm@pub.guangzhou.gd.cn

The first 300 words of the full text of this article appear below.

Deficiency of glucose-6-phosphate dehydrogenase (G6PD) is the most common inherited metabolic enzyme disorder in the world, with a very high incidence throughout the tropics and subtropics as a result of malarial selection (1)(2)(3). More than 140 mutations or combinations of mutations of the X-linked gene for G6PD have been characterized at the DNA level from different ethnic populations worldwide (4)(5). In areas of Southeast Asia, including southern China, at least 25 deficiency-causing point mutations have been identified in the human G6PD gene. Ten mutations (95AG, 392GT, 487GA, 493AG, 592CT, 871GA, 1024CT, 1360CT, 1376GT, and 1388GA) account for >80% of all known mutations in Southeast Asian countries (4)(5)(6)(7)(8).

The current molecular approaches to identifying G6PD-deficiency–causing mutations rely on various methods for allele differentiation (7)(8)(9)(10). Each of these approaches has advantages and limitations, but the technical aspects and/or cost have limited their routine use in most laboratories. Rapid and accurate genotyping of G6PD-deficiency–causing mutations is necessary to meet the requirements for genetic counseling, genetic epidemiology, and clinical molecular diagnosis of this disorder.

We have developed a multiplex primer extension/fully denaturing HPLC (PE/DHPLC) assay capable of simultaneously detecting the above 10 G6PD mutations and 1 common polymorphism (1311CT) (11). Eleven genomic DNA samples with different known genotypes, including the above 11 G6PD mutations and the silent polymorphism as previously determined by direct sequencing, were used to validate this application. A total of 209 blood samples with various G6PD-deficiency–causing mutations, the silent polymorphism, or the wild-type G6PD gene sequence identified by direct sequencing were obtained to test the specificity of this assay by . . . [Full Text of this Article]