首页> 外文期刊>American Journal of Kidney Diseases: The official journal of the National Kidney Foundation >Molecular genetic and immunohistochemical study of autosomal recessive Alport's syndrome.
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Molecular genetic and immunohistochemical study of autosomal recessive Alport's syndrome.

机译:常染色体隐性遗传隐性阿尔波特综合征的分子遗传学和免疫组化研究。

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摘要

A DNA analysis of autosomal type IV collagen alpha3 and alpha4 chain genes (COL4A3 and COL4A4) and an immunohistochemical study of type IV collagen alpha1 to alpha6 chains were performed in an inbred family with autosomal recessive Alport's syndrome (AS). A linkage study using polymorphic markers around the COL4A3/COL4A4 genes clearly differentiated the affected patients from healthy individuals. These patients were homozygous for all markers analyzed, whereas their parents were heterozygotes. Because of the large size of both the genes and the heterogeneous range of the mutations of these genes, linkage analysis by using highly polymorphic markers is still the method of choice in genetic counseling for autosomal recessive AS, as well as for the X-linked form. Although the distribution of alpha1 and alpha2 chains in the index patient and her affected sister were normal, the alpha3 and alpha4 chains were completely defective in the renal basement membrane (BM). The alpha5 chain could be found in Bowman's capsular basement membrane (BCBM) but not in the glomerular basement membrane (GBM). In addition, our study showed, for the first time, that the alpha6 chain in BCBM is spared in this form of AS. This abnormal pattern of type IV collagen could be a useful tool for differentiation of the autosomal recessive type from the X-linked type of AS.
机译:在具有常染色体隐性Alport综合征(AS)的近交家庭中进行了常染色体IV型胶原α3和α4链基因(COL4A3和COL4A4)的DNA分析以及对IV型胶原α1至α6链的免疫组织化学研究。一项使用COL4A3 / COL4A4基因周围多态性标记的连锁研究清楚地将受影响的患者与健康个体区分开。这些患者的所有标记物均为纯合子,而其父母均为杂合子。由于这两个基因的大小都很大,而且这些基因的突变范围很广,因此,使用常态多态性标记进行连锁分析仍然是常染色体隐性遗传性AS和X连锁形式遗传咨询的首选方法。 。尽管索引患者及其患病姐妹中α1和α2链的分布正常,但α3和α4链在肾基底膜(BM)中完全有缺陷。 alpha5链可以在Bowman的荚膜基底膜(BCBM)中找到,而在肾小球基底膜(GBM)中找不到。此外,我们的研究首次显示,BCBM中的alpha6链可以避免这种形式的AS。 IV型胶原蛋白的这种异常模式可能是区分常染色体隐性遗传型和X连锁型AS的有用工具。

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