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Alport综合征是一种遗传性肾脏疾病,主要表现为X—连锁遗传,也有常染色体遗传方式的报道,基因频率约1:5000。X—连锁的Alport综合征已证明是由新近被分离的Ⅳ型胶原α_5链基因COL4A5的突变引起的,该基因定位于Xq22,应用抗合成肽抗体显示出α_5 (Ⅳ)链只存在于肾脏的GBM上,并进一步弄清了超过200kb长的基因内含子—外显子的结构。到目前为止已鉴别出多种COL4A5基因突变,包括单个碱基突变、大片段缺失、倒位、重复和其他重排。Alport综合征是第一个被克隆了基因的遗传性肾脏和基底膜病,这一新的进展已使应用抗体和DNA探针实现对该病的准确诊断成为可能。
Alport’s syndrome is a hereditary kidney disease, mainly X-linked inheritance, and autosomal inheritance, with a gene frequency of about 1:5000. X-linked Alport Syndrome has been shown to be caused by a mutation in the newly isolated type IV collagen alpha 5 chain gene, COL4A5. This gene is localized in Xq22 and the use of anti-synthetic peptide antibodies shows that the α_5 (IV) chain is only present in the kidney. On GBM, and further clarified the structure of the intron-exon that is more than 200kb long. A variety of COL4A5 gene mutations have been identified so far, including single base mutations, large fragment deletions, inversions, repeats, and other rearrangements. Alport’s syndrome is the first genetically inherited kidney and basement membrane disease that has been cloned. This new development has made it possible to use antibodies and DNA probes to accurately diagnose the disease.