Identification of a single base insertion in the COL4A5 gene in Alport syndrome
โ Scribed by Nakazato, Hitoshi; Hattori, Shinzaburo; Matsuura, Toshinobu; Koitabashi, Yasushi; Endo, Fumio; Matsuda, Ichiro
- Book ID
- 109882547
- Publisher
- Nature Publishing Group
- Year
- 1993
- Tongue
- English
- Weight
- 602 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0085-2538
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๐ SIMILAR VOLUMES
This study summarizes 47 novel mutations identified during routine molecular diagnostics for Alport syndrome. We detected 34 in COL4A5, the gene responsible for X-linked Alport syndrome, and 13 in COL4A3 and COL4A4, the genes responsible for autosomal recessive Alport syndrome. A high detection rate
Fourteen Italian patients affected with X-linked Alport syndrome were analyzed by Southern blotting, using cDNA probes of the COL4A5 gene. One proband was shown to carry a large deletion (greater than 38 kb) that included the 5' part of the gene.
Mutations in the COL4A5 gene, which encodes the a5 chain of type IV collagen, are found in a large fraction of patients with Xlinked Alport syndrome. The recently discovered COL4A6, tightly linked and highly homologous to COL4A5, represents a second candidate gene for Alport syndrome. We analyzed 17