小鼠AE1 C1-/HCO3-交换基因slc4al的短序列重复多态性

B. Shmukler, S. Wilhelm, S. Alper
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引用次数: 0

摘要

人AE1阴离子交换基因SLC4A1编码红细胞和分泌酸插层细胞基底外膜的C1-/ hc03交换基因。SLC4A1基因突变与常染色体显性遗传性球细胞性贫血以及显性和隐性远端肾小管酸中毒相关。小鼠也产生了slc4a1Ae1基因的敲除,并且缺乏红细胞和肾脏的表达。然而,slc4a1基因的基因内多态性标记还没有找到。在这里,我们报告了先前鉴定的小鼠Ae1基因内含子13的CA重复元件显示出菌株特异性长度多态性。
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Short Sequence Repeat Polymorphism in the Mouse slc4al Gene Encoding the AE1 C1-/HCO3- Exchanger
The human AE1 anion exchanger gene SLC4A1 encodes the C1-/HC03-exchangers of the erythrocyte and the Type Acid-secreting intercalated cell basolateral membrane. Mutations in SLC4A1 have been correspondingly linked with autosomal dominant hereditary spherocytotic anemia and with both dominant and recessive forms of distal renal tubular acidosis. Murine knockouts in the slc4a1Ae1 gene have also been generated, and lack erythroid and renal expression. However, intragenic polymorphic markers for the slc4a1 gene have been unavailable. Here we report that a previously identified CA repeat element of intron 13 of the murine Ae1 gene exhibits strain-specific length polymorphism.
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