Immunoglobulin heavy chain switch region restriction fragment length polymorphisms are associated with renal disease.
Immunoglobulin heavy chain switch region restriction fragment length polymorphisms are associated with renal disease.
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免疫球蛋白重链转换区限制性片段长度多态性与肾脏疾病相关。
DOI：
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发表时间：
1986
影响因子：
4.6
通讯作者：
K. Welsh
中科院分区：
文献类型：
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作者：
A. Demaine;D. Taube;R. Vaughan;L. Kerr;K. Welsh
我们在这里描述，据我们所知的第一次，在基因组DNA水平的免疫球蛋白基因区的多态性和肾脏疾病，导致慢性肾功能衰竭之间的关联。最近的研究表明，存在于免疫球蛋白（IG）重链（Gm同种异型）中的蛋白质多态性与某些形式的肾脏疾病和终末期肾衰竭本身相关。为了在DNA水平上研究这种关联，我们使用了识别IG重链基因的探针，本报告描述了其中之一，S μ开关区探针获得的结果。用限制性内切酶Sst 1（或同功酶异构体; Sac I）可以获得许多限制性片段长度多态性（RFLP），这些多态性可被该探针识别，并且在某些限制性片段长度多态性与肾病之间存在高度显著的关联。这是首次报道IG转换区多态性与疾病相关，但我们的研究结果表明，S μ RFLP与肾脏疾病的关系比IG蛋白多态性更密切。
We describe here, to our knowledge for the first time, associations between polymorphisms at the genomic DNA level in the immunoglobulin gene region and renal diseases which lead to chronic renal failure. Recent studies have shown that protein polymorphisms, present in immunoglobulin (Ig) heavy chains (Gm allotypes) are associated with certain forms of renal disease and with end stage renal failure per se. To investigate this association at the DNA level we have used probes which recognize Ig heavy chain genes and this report describes results obtained with one of these, the S mu switch region probe. With the restriction endonuclease Sst 1 (or the isoschizomer; Sac I) a number of restriction fragment length polymorphisms (RFLP) can be obtained which are recognized by this probe and there is a highly significant association between certain of these and renal disease. This is the first report of Ig switch region polymorphisms being associated with disease, yet our results suggest that S mu RFLP are more closely linked to renal disease than Ig protein polymorphisms.