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Screening of SLC25A13 mutation in the Thai population

World Journal of Gastroenterology 2013年第43期19卷 7735-7742页

作者： Parith Wongkittichote Chonlaphat Sukasem Atsuo Kikuchi Wichai Aekplakorn Laran T Jensen Shigeo Kure Duangrurdee Wattanasirichaigoon Graduate Program in Molecular Medicine Faculty of ScienceMahidol UniversityBangkok 10400Thailand Division of Pharmacogenomics and Personalized Medicine Department of PathologyFaculty of Medicine Ramathibodi HospitalMahidol UniversityBangkok 10400Thailand Department of Pediatrics Tohoku University Graduate School of MedicineSendai 980-8577Japan Department of Community Medicine Faculty of Medicine Ramathibodi HospitalMahidol UniversityBangkok 10400Thailand Department of Biochemistry Faculty of ScienceMahidol UniversityBangkok 10400Thailand Division of Medical Genetics Department of PediatricsFaculty of Medicine Ramathibodi HospitalMahidol UniversityBangkok10400 Thailand

AIM: To determine the prevalence of SLC25A13 mutations in the Thai population.METHODS: A total of 1537 subjects representing the Thai population were screened for a novel pathologic allele ***1? (c.2T > C) and six previously known common SLC25A13 mutations: [I] (c.851_854delGTAT), [II] (***11 + 1G > A), [III] (c.1638_1660dup), [IV] (p.S225X), [V] (IVS13 + 1G > A), and [XIX] (***16ins3kb) using a newly developed TaqMan and established HybProbe assay, respectively. Sanger sequencing was employed for specimens showing an aberrant peak to confirm the targeted mutation as well as the unknown aberrant peaks detected. Frequencies of the mutations identified were compared in each region. Carrier frequency and disease prevalence of citrin deficiency caused by SCL25A13 mutations were estimated.RESULTS: ***1? was identified in the heterozygous state in 85 individuals, giving a carrier frequency of 1/18, which suggests possible selective advantage of this variant. The question of ***1? homozygote lethality remains unanswered which may serve as an explanation as to why this homozygote has yet to be identified in patients/controls even with high allele frequency. The ***1? mutation has rarely been studied in populations other than Thai and Chinese; therefore, may have been overlooked. Development of the TaqMan assay in the present study would allow a simple, rapid, and cost-effective method for mass screening. Heterozygous mutations: [XIX] and [I] were identified in 17 individuals, giving a carrier rate of 1/90 and a calculated homozygote rate of 1/33000. Two novel variants, ***11 + 17C > G and c.1311C > T, of unknown clinical significance were identified at low frequency.CONCLUSION: This study highlighted the current underestimation of citrin deficiency and suggests the possible selective advantage of the ***1? allele.

关键词： Aspartate-glutamate carrier Isoform 2 citrin deficiency Type II citrullinemia Neonatal intrahepatic cholestasis caused by citrin deficiency SLC25A13

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