ความชุกและรูปแบบความผันแปรที่ก่อให้เกิดภาวะพร่องเอนไซม์ กลูโคส-6-ฟอสเฟตดีไฮโดรจีเนสในกลุ่มชาติพันธุ์ไทลื้อในภาคเหนือ ของประเทศไทย

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common red blood cell disorders in Southeast Asia. Previous studies reported that the distribution of G6PD prevalence varied from different regions and among ethnic groups. To reveal the G6PD frequency and variants in Tai Lue population of northern Thailand, blood samples of 296 unrelated individuals from 6 Tai Lue villages were analyzed. The observed G6PD enzyme activity ranged from 0.11 to 20.60 Uig Hb. Among studied samples, 13.51% (40/296) showed enzyme activity lower than 4.68 U/g Hb and were identified to have G6PD deficiency status. The G6PD genotype were investigated using DiaPlexCM G6PD Genotyping kit (Asian type) and direct sequencing. The most common G6PD variants in Tai Lue were Kaiping 1388G>A (5.40%) and Canton 1376G>T (6.42%). Investigation of hemoglobin E (HbE) prevalence which related to G6PD deficiency inheritance found that 6.76% (20/296) of Tai Lue individuals carried HbE gene. Co-inheritance of G6PD and HbE variants was found in 1.35% of samples. Comparing to other ethnic groups, the observed G6PD and HbE prevalences of Tai Lue were similar to the Tai-Kadai speaking ethnic groups who were living in southern China, which reflected their close genetic relationship and ancestry. However, the fluctuation of prevalence found in each village may be shaped by the founder efiect occurred during Tai Lue's transboundary migration from China to Thailand.