Diverse point mutations result in glucose-6-phosphate dehydrogenase (G6PD) polymorphism in Taiwan.

摘要: Glucose-6-PHOSPHATE dehydrogenase (G6PD; EC 1.1.1.49) deficiency is the most common human enzymopathy, affecting more than 200 million people worldwide. Although greater 400 variants have been described based on clinical and biochemical criteria, little known about molecular basis of these G6PD deficiencies. Recently, gene that encodes has cloned sequenced, which enables us to examine directly heterogeneity at DNA level. During past 10 years, we examined activity in 21,271 newborn Chinese infants (11,400 males 9,871 females) identified 314 (2.8%) 246 (2.5%) females having low activity. The from randomly selected affected individuals their relatives was polymerase chain reaction (PCR) amplified, subcloned, sequenced. Our results indicate least four types mutation are responsible for polymorphism Taiwan. first type (487 G----A) found an with a G A change nucleotide 487, (163)Gly Ser substitution. second (493 A----G) novel not reported any other ethnic group two Chinese. This causes position 493, producing (165)Asn Asp Interestingly, 487 G----A 493 A----G mutations create Alu I Ava II recognition sites, respectively, enabled rapidly detect by PCR/restriction enzyme (RE) digestion method. third (1376 G----T) T 1376 (459)Arg Leu G----T seems be dominant allele Finally, were as fourth (1388 G----A). 1388 produces (463)Arg His studies provide direct proof genetic populations Taiwan PCR/RE method suitable simultaneous detection mutations.