本文選題：原發(fā)性腎性糖尿　切入點(diǎn)：SLCA基因　出處：《臨床兒科雜志》2017年06期 　論文類型：期刊論文

【摘要】：目的探討腎性糖尿的臨床特點(diǎn)及基因突變。方法分析1例腎性糖尿患兒的臨床資料及基因檢測結(jié)果。結(jié)果患兒,女,2歲10個(gè)月。尿糖++++,24小時(shí)尿糖22.4 g。父親曾有尿糖陽性。提取患兒及父母外周血DNA,聚合酶鏈反應(yīng)擴(kuò)增SLC5A2基因外顯子及與內(nèi)含子拼接區(qū)進(jìn)行測序分析。結(jié)果顯示,患兒存在剪接位點(diǎn)突變c.127-16CA(純合),其父母均為雜合突變,Clin Var數(shù)據(jù)庫將此變異歸類為致病性變異。結(jié)論患兒確診為原發(fā)性腎性糖尿,SLC5A2基因突變是其致病原因。
[Abstract]:Objective to investigate the clinical characteristics and gene mutation of renal glycosuria. Women were 2 years old and 10 months old. Urine sugar was 22.4 g in 24 hours urine sugar. The father had positive urine sugar. The peripheral blood DNAs of children and parents were extracted and sequenced by polymerase chain reaction (PCR) to amplify exons of SLC5A2 gene and splice with intron. The splicing site mutation c.127-16CAA (homozygote) was classified as pathogenicity variation by Clin Var database. Conclusion the mutation of SLC5A2 gene in children with primary renal glycosuria is the cause of the disease. [WT5HZ] [WT5BZ] [WT5BZ] [WT5 "BZ] [WT5" BZ] [WT5 "BZ]
【作者單位】： 上海交通大學(xué)醫(yī)學(xué)院附屬上海兒童醫(yī)學(xué)中心;
【基金】：國家自然科學(xué)基金資助項(xiàng)目(No.81370930,No.81371903,No.81472051)
【分類號(hào)】：R726.9

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