Диагностика Х-сцепленного синдрома Альпорта.Х-тіркескен Альпорт синдромының диагностикасы

B. T. Baikara; S. E. Rahimova; N. B. Nigmatullina

Authors

B. T. Baikara Национальный центр биотехнологии.г. Астана, Казахстан
S. E. Rahimova Назарбаев Университет, г. Астана, Казахстан
N. B. Nigmatullina Национальный научный центр материнства и детства, г. Астана, Казахстан

Keywords:

hematuria, X-linked Alport syndrome, glomerular basement membrane, type IV collagen, COL4A5

Abstract

In the study, the gene COL4A5 was genotyped by direct sequencing of the family with X-linked Alport syndrome. Based on the results of genotyping of both members of the family identified previously described mutation ekzone2204G 25> A, due to the replacement of glycine with glutamic acid in position 735. They are the carriers of the heterozygous mutation allele B25 exon (Gly735Glu). As a result, it can be concluded the mutation Gly735Glu, is pathogenic and associated with juvenile type of hereditary nephritis, which is characterized by early development of chronic renal failure (16 years).