Russian Journal of Genetics

, Volume 48, Issue 3, pp 321–328

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

  • D. D. Nadyrshina
  • R. I. Khusainova
  • E. K. Khusnutdinova
Human Genetics

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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Copyright information

© Pleiades Publishing, Ltd. 2012

Authors and Affiliations

  • D. D. Nadyrshina
    • 1
  • R. I. Khusainova
    • 1
  • E. K. Khusnutdinova
    • 1
    • 2
  1. 1.Institute of Biochemistry and Genetics, Ufa Scientific CenterRussian Academy of SciencesUfaRussia
  2. 2.Department of Genetics and Basic MedicineBashkortostan State UniversityUfaRussia

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