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

  • Human Genetics
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Abstract

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.

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Authors and Affiliations

  1. Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences, Ufa, 450054, Russia

    D. D. Nadyrshina, R. I. Khusainova & E. K. Khusnutdinova

  2. Department of Genetics and Basic Medicine, Bashkortostan State University, Ufa, 450074, Russia

    E. K. Khusnutdinova

Authors
  1. D. D. Nadyrshina
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  2. R. I. Khusainova
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  3. E. K. Khusnutdinova
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Correspondence to D. D. Nadyrshina.

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Original Russian Text © D.D. Nadyrshina, R.I. Khusainova, E.K. Khusnutdinova, 2012, published in Genetika, 2012, Vol. 48, No. 3, pp. 372–380.

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Nadyrshina, D.D., Khusainova, R.I. & Khusnutdinova, E.K. Studies of type I collagen (COL1A1) α1 chain in patients with osteogenesis imperfecta. Russ J Genet 48, 321–328 (2012). https://doi.org/10.1134/S102279541203009X

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  • DOI: https://doi.org/10.1134/S102279541203009X

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