Studies of type I collagen (COL1A1) α1 chain in patients with osteogenesis imperfecta

Studies of type I collagen (COL1A1) α1 chain in patients with osteogenesis imperfecta Nucleotide sequences of exon 51, adjacent intron areas, and regulatory region of the α1 chain of type I collagen (COL1A1) gene were analyzed in 41 patients with osteogenesis imperfecta (OI) from 33 families and their 68 relatives residing at Bashkortostan Republic (BR). Six mutations (four nonsense mutations c.967G>T (p.Gly323X), c.1081C>T (p.Arg361X), c.1243C>T (p.Arg415X), and c.2869C>T (p.Gln957X)) in patients of the Russian origin and two frameshift mutations (c.579delT (p.Gly194ValfsX71), and c.2444delG (p.Gly815AlafsX293)) in patients with OI of Tatar ethnicity as well as 14 single nucleotide polymorphisms in the COL1A1 gene were revealed. Mutations c.967G>T (p.Gly323X) and three alterations in the nucleotide sequence c.544-24C>T, c.643-36delT, and c.957 + 10insA were described for the first time. Russian Journal of Genetics Springer Journals

Studies of type I collagen (COL1A1) α1 chain in patients with osteogenesis imperfecta

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SP MAIK Nauka/Interperiodica
Copyright © 2012 by Pleiades Publishing, Ltd.
Biomedicine; Animal Genetics and Genomics; Microbial Genetics and Genomics; Human Genetics
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