Title: Screening for the mutations of COL4A3/COL4A4 genes in an autosomal recessive Alport syndrome family
Abstract: Objective To screen for the COL4A3 and COL4A4 mutations in a Chinese consanguineous family with autosomal recessive Alport syndrome (ARAS). Methods Using PCR and direct sequencing, all 52 coding exons of the COL4A3 gene and 46 exons, except exon-1, of the COL4A4 gene were analyzed to detect mutations in the pedigree with ARAS. Furthermore, mutation was identified by restriction endonuclease AvaⅡ in all other 20 members. Results A novel missense mutation (3725 GA, G1242D) in exon 42 of the COL4A3 gene was identified in homozygous form. This pathogenic mutation was demonstrated in heterozygous forms in all carriers in this family, whereas it was detected neither in the other normal members of the family nor in the 50 controls. In addition, 10 polymorphisms, including one nonglycine missense variants and 9 neutral polymorphisms, were detected in COL4A3/COIAA4. Conclusion The novel pathogenic mutation (3725 GA, G1242D) of the COL4A3 gene may be the underlying pathogen in this family and it is the first reported case in ARAS.
Publication Year: 2005
Publication Date: 2005-01-01
Language: en
Type: article
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