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

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 fam ilies 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 poly morphisms 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.

Osteogenesis Imperfecta Genotypes and Genotype–Phenotype Relationships

“…For example, the c.1243C>T variant in exon 19 which yields the p.(Arg415*) PTC is reported to result in OI type IV in one patient 36 and OI type III/IV in another. 37 In the latter case, the patient phenotype has been confirmed directly with the authors. The c.1405C>T variant in exon 21 yielding the p.(Arg469*) PTC resulting in OI type IV 38 has also been confirmed directly with the authors.…”

Screening of osteoprotegerin-related feature genes in osteoporosis and functional analysis with DNA microarray

“…It is mostly produced and secreted by osteoblasts and fibroblasts. Mutations in this gene are associated with osteogenesis imperfecta types I to IV, idiopathic osteoporosis and Caffey Disease [18]. In a population-based sample of 1,778 postmenopausal women, COLIA1 genotypes of G/G homozygotes (SS), G/T homozygotes (Ss), and T/T homozygotes (ss) is associated with reduced bone density and predisposes women to osteoporotic fractures [19].…”

Genetic architecture of osteogenesis imperfecta in the Republic of Bashkortostan

“…1.2 , Khusainova R.I. 1.2 , Tyurin A.V. 3 Н есовершенный остеогенез (НО) (МКБ-10: Q78.0, несовершенный остеогенез) -клинически и генетически гетерогенное наследственное заболевание соединительной ткани, в основе которого лежат генетические изменения, приводящие к нарушению структуры костной ткани [1]. Идентифицирован 21 ген, вовлеченный в патогенез НО [2], но пока не выяснена степень генетической гетерогенности заболевания.…”