Genetic mutation screening of glucose-6-phosphate dehydrogenase deficiency in Dongguan district / 中华医学遗传学杂志

OBJECTIVE@#To determine the incidence and genotypes of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Dongguan region of Guangdong Province and assess the efficacy and feasibility of flow-through hybridization.@*METHODS@#Peripheral blood samples were randomly selected and detected by modified G6PD/6PGD ratio method. Flow-through hybridization was used to detect 14 G6PD mutations among all samples.@*RESULTS@#In total 1005 samples were collected, the detection rate for modified G6PD/6PGD ratio method and flow-through hybridization were 2.79% and 20.90%, respectively. The consistency of the two methods was poor(Kappa=0.187). When c.1311C>T mutation is excluded, the consistency of the two methods was good for males (Kappa=0.952) but still poor for females (Kappa=0.194). The most common mutations were c.1376G>T, c.1388G>A and c.95A>G. No G6PD deficiency was found among those only carrying the c.1311C>T mutation.@*CONCLUSION@#Flow-through hybridization can simultaneously detect 14 loci, covering over 90% of common mutations in Chinese population, and can be easily expanded. The routine method may miss many females carrying homozygous, compound heterozygous and heterozygous mutations, but the detection rate for male hemizygous mutation was much higher.

THE EFFECT OF IODINE DEFICIENCY ON ~3H-LEUCINE INCORPORATION INTO CEREBRUM AND CEREBELLUM DURING DEVELOPMENT OF THE BRAIN / 营养学报

The study was made on 3H-leucine incorporation into brain of offsprings born by their mothers who were fed in severe iodine deficiency area. Control group received an iodine-supplemented diet (1.7mg KIO3/kg food). Disintegration per minute (dpm) was used as an index to assess the 3H-leu-cine incorporation rate in comparision of the two groups.The results of 3H-leucine incorporation into brain showed that the dpm/mg of brain cortex and cerebellum was significantly lower in experimental group than that of control group at the time of 1-14 hours after injection of the preparation on 11-day offsprings (p