Screening of SLC25A13 mutation in the Thai population

查看全文 作　　者：Parith [1]Wongkittichote;Chonlaphat [2]Sukasem;Atsuo [3]Kikuchi;Wichai [4]Aekplakorn;Laran T [5]Jensen;Shigeo [3]Kure;Duangrurdee [6]Wattanasirichaigoon

机构地区：[1]Graduate Program in Molecular Medicine,Faculty of Science,Mahidol University,Bangkok 10400,Thailand;[2]Division of Pharmacogenomics and Personalized Medicine,Department of Pathology,Faculty of Medicine Ramathibodi Hospital,Mahidol University,Bangkok 10400,Thailand;[3]Department of Pediatrics,Tohoku University Graduate School of Medicine,Sendai 980-8577,Japan;[4]Department of Community Medicine,Faculty of Medicine Ramathibodi Hospital,Mahidol University,Bangkok 10400,Thailand;[5]Department of Biochemistry,Faculty of Science,Mahidol University,Bangkok 10400,Thailand;[6]Division of Medical Genetics,Department of Pediatrics,Faculty of Medicine Ramathibodi Hospital,Mahidol University,Bangkok,10400 Thailand

出　　处：《World Journal of Gastroenterology》索引2013年第19卷第43期,共8页

基　　金：Supported by A joint grant from Mahidol University Faculty of Science and Ramathibodi Hospital Faculty of Medicine (Jensen LT and Wattanasirichaigoon D);Mahidol University (Wattanasirichaigoon D: 49/2556);the Pharmacogenomics Project,the collaborative project from the Thailand Center of Excellence for Life Science and Mahidol University to Sukasem C;the Medical Scholars Program of Mahidol University (Wongkittichote P);a recipient (Wattanasirichaigoon D) of Research Career Development Award,Faculty of Medicine Ramathibodi Hospital 摘　　要：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 p.Met1?(c.2T>C)and six previously known common SLC25A13 mutations:[Ⅰ](c.851_854delGTAT),[Ⅱ](g.IVS11+1G>A),[Ⅲ](c.1638_1660dup),[Ⅳ](p.S225X),[Ⅴ](IVS13+1G>A),and[XIX](g.IVS16ins3kb)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:p.Met1?was identified in the heterozygous state in 85 individuals,giving a carrier frequency of1/18,which suggests possible selective advantage of this variant.The question of p.Met1?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 p.Met1?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,g.IVS11+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 p.Met1?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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Screening of SLC25A13 mutation in the Thai population

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