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背景 红细胞同种异型Jka和JKb是可溶性载体家族14二态性(838G>A)的结果,该家族是对应于Kidd(JK)糖蛋白细胞外第三环区一个氨基酸改变(D280N)的尿素穿膜1(SLC14A1)基因。有两种遗传机制决定JK(a-b-)或JK表型:JK沉默等位基因的纯合子遗传或JK显性抑制基因的遗传。以前的研究表明JK位点外显子6和7去除的遗传突变引起JKb沉默等位基因。SLC14A1内838位核苷多态性位点产生MnI的限制性位点,可用于区分Jka和JKb等位基因。Jka等位基因携带有JKb等位基因不表达的MnI限制性位点。本研究的目的是建立
Background The erythrocyte allotype Jka and JKb are the result of a soluble carrier family 14 dyadic (838G> A) family of urea penetrations corresponding to an amino acid change (D280N) in the extracellular third-ring region of the Kidd (JK) glycoprotein Membrane 1 (SLC14A1) gene. There are two genetic mechanisms that determine the JK (a-b-) or JK phenotype: homozygous inheritance of the JK silent allele or inheritance of JK dominant suppressor genes. Previous studies have shown that genetic mutations that remove exons 6 and 7 at the JK site cause the JKb silent allele. The 838 nucleoside polymorphism site within SLC14A1 produces a MnI restriction site that can be used to distinguish the Jka and JKb alleles. The Jka allele carries the MnI restriction site that is not expressed by the JKb allele. The purpose of this study is to establish