ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМПymj-1989Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHПоиск мутаций в гене COL1A1 у больных несовершенным остеогенезом из Республики Саха (Якутия)Search for mutations in the COL1A1 gene in patients with osteogenesis imperfecta from the Republic Sakha (Yakutia)ХусаиноваР. И.KhusainovaR. I.

Хусаинова Рита Игоревна – с.н.с.

Ufa, Prospekt Oktyabrya, 71;

Ufa, Zaki Validy, 32

ritakh@mail.ruНадыршинаД. Д.NadyrshinaD. D.

Надыршина Дина Даяновна – н.с.

Ufa, Prospekt Oktyabrya, 71;

Ufa, Zaki Validy, 32

dinanad@mail.ruГилязоваИ. Р.GilyazovaI. R.

Гилязова Ирина Ришатовна –к.б.н., н.с.

Ufa, Prospekt Oktyabrya, 71

АлексееваС. П.AlekseevaS. P.

Алексеева Светлана Петровна – врач-генетик

Yakutsk, Sergelyakhskoe Shosse, 4

НоговицынаА. Н.NogovitsynaA. N.

Ноговицына Анна Николаевна – врач-генетик, зав. лаб.

Yakutsk, Sergelyakhskoe Shosse, 4

nogan@yandex.ruСухомясоваА. Л.SukhomyasovaA. L.

Сухомясова Айталина Лукична – зав. МГК, зав. лаб.

Yakutsk, Sergelyakhskoe Shosse, 4

aitalinas@yandex.ruФедороваС. А.FedorovaS. A.

Федорова Сардана Аркадьевна – зав. лаб.

зав. лаб. БГФ

Yakutsk, Sergelyakhskoe Shosse, 4

sardaanafedorova@mail.ruХуснутдиноваЭ. К.KhusnutdinovaE. K.

Хуснутдинова Эльза Камилевна – зав. отделом

Ufa, Prospekt Oktyabrya, 71;

Ufa, Zaki Validy, 32

elzakh@rambler.ruФГУН Институт биохимии и генетики УНЦ РАНРоссияInstitute of Biochemistry and Genetics, Ufa Science; Bashkir State UniversityRussian FederationФГУН Институт биохимии и генетики УНЦ РАНРоссияInstitute of Biochemistry and Genetics, Ufa ScienceRussian FederationМГК РБ№1-НЦМ МЗ РС(Я)РоссияMedical Genetic Consulting Clinic of Republican Hospital №1 of Sakha Republic (Yakutia)"Russian FederationМГК РБ№1-НЦМ МЗ РС(Я); ЯНЦ КМП СО РАМНРоссияMedical Genetic Consulting Clinic of Republican Hospital №1 of Sakha Republic (Yakutia)"; Yakut Scientific Center of Complex Medical Problems of RAMSRussian FederationМГК РБ№1-НЦМ МЗ РС(Я); ЯНЦ КМП СО РАМН; СВФУ им. М.К.АммосоваРоссияYakut Scientific Center of Complex Medical Problems of RAMS; North-Eastern Federal University of Maksim AmmosovRussian Federation201212102025033941Copyright © Хусаинова Р.И., Надыршина Д.Д., Гилязова И.Р., Алексеева С.П., Ноговицына А.Н., Сухомясова А.Л., Федорова С.А., Хуснутдинова Э.К., 20252025Хусаинова Р.И., Надыршина Д.Д., Гилязова И.Р., Алексеева С.П., Ноговицына А.Н., Сухомясова А.Л., Федорова С.А., Хуснутдинова Э.К.Khusainova R.I., Nadyrshina D.D., Gilyazova I.R., Alekseeva S.P., Nogovitsyna A.N., Sukhomyasova A.L., Fedorova S.A., Khusnutdinova E.K.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://ymj.elpub.ru/jour/article/view/1989

Исследование 51 экзона и прилегающих интронных областей гена COL1A1 у больных несовершенным остеогенезом из Якутии выявило 2 различные мутации: сдвига рамки считывания c.3540_3541insC (p.Gly1181AlafsX38) у больного НО якутской и мутация сайта сплайсинга c.4005+1G>T у пациента русской этнической принадлежности. Мутация c.3540_3541insC (p.Gly1181AlafsX38) в гене COL1A1 описана впервые. Обнаруженные мутации относятся к количественным, приводят к 1 клиническому типу заболевания, выявлены в гетерозиготном состоянии и являются уникальными для каждой семьи.

DNA sequencing of 51 exons and exon-intron junctions in COL1A1 gene in patients with osteogenesis imperfecta from Yakutia was performed. Two different mutations: mutations shifting the reading frame c.3540_3541insC (p.Gly1181AlafsX38) are identified in a patient of Yakut ethnicity and splicing site mutation c.4005 +1 G> T in patient of Russian ethnic origin. Mutation c.3540_3541insC (p.Gly1181AlafsX38) hasn’t been described early. Mutations lead to a clinical 1 type of osteogenesis imperfecta, identified in heterozygous state and are unique to each family.

несовершенный остеогенезколлаген 1 типамутацииosteogenesis imperfectacollagen type 1mutationsReferencesПузырев В.П. Наследственные болезни у якутов / В.П. Пузырев, Н.Р. Максимова // Генетика. -2008.- Том 44. № 10.- С. 1308-1314.Puzyrev V.P., Maksimova N.R. Hereditary diseases among Yakuts / V.P. Puzyrev, N.R. Maksimova // Genetics. -2008. - Vol.44. №10. – P. 1308-1314.Федорова С.А. Генетические портреты народов Республики Саха (Якутия): анализ линий митохондриальной ДНК и Y-хромосомы / С.А. Федорова. – Якутск: Изд-во ЯНЦ СО РАМН, 2008. - 235 с.Fedorova S.A. Genetic portraits of populations from the Republic of Sakha (Yakutia): analysis of mitochondrial DNA and Y-chromosome lineages / S.A. Fedorova // YSC SD RAMS Press. Yakutsk.2008. 235 p.A New Osteogenesis Imperfecta with Improvement over Time Maps to 11q /A. KamounGoldrat [et al.] // American Journal of Medical Genetics. - 2008. – V. 146A. - P. 1807–1814.A New Osteogenesis Imperfecta with Improvement over Time Maps to 11q /A. KamounGoldrat [et al.] // American Journal of Medical Genetics. - 2008. – V. 146A. - P. 1807–1814.A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family /W. Liu [et al.] // Molecular Vision. – 2007. – V. 13. – P. 360-65.A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family /W. Liu [et al.] // Molecular Vision. – 2007. – V. 13. – P. 360-65.A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family /Xin-Yi Xia [et al.] // Clinica Chimica Acta. – 2008. - V. 398. – P. 148-151.A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family /Xin-Yi Xia [et al.] // Clinica Chimica Acta. – 2008. - V. 398. – P. 148-151.A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proα1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases / J.M. Pace [et al.] // J Med Genet. - 2002. - V. 39. - P. 23–29.A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proα1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases / J.M. Pace [et al.] // J Med Genet. - 2002. - V. 39. - P. 23–29.Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations / J. Körkkö [et al.] // Am J Hum Genet. – 1998. – V. 62(1). - P. 98-110.Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations / J. Körkkö [et al.] // Am J Hum Genet. – 1998. – V. 62(1). - P. 98-110.Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfect /F.K. Swinnen [et al.] // Laryngoscope. – 2009. – V. 119(6). – P.1171-1179.Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfect /F.K. Swinnen [et al.] // Laryngoscope. – 2009. – V. 119(6). – P.1171-1179.Benusiené E. COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfect / E. Benusiené, V. Kucinskas // J Appl Genet. - 2003. – V. 44(1). – P. 95-102.Benusiené E. COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfect / E. Benusiené, V. Kucinskas // J Appl Genet. - 2003. – V. 44(1). – P. 95-102.Cheung M.S. Osteogenesis Imperfecta: Update on presentation and management / M.S. Cheung, F.H. Glorieux // Rev Endocr Metab Disord. – 2008. – V. 9. – P. 153–160.Cheung M.S. Osteogenesis Imperfecta: Update on presentation and management / M.S. Cheung, F.H. Glorieux // Rev Endocr Metab Disord. – 2008. – V. 9. – P. 153–160.Deficiency of Cartilage-Associated Protein in Recessive Lethal Osteogenesis Imperfecta / Barnes A.M. [et al.] // N Engl J Med. – 2006. – Vol. 355. – P. 2757-64.Deficiency of Cartilage-Associated Protein in Recessive Lethal Osteogenesis Imperfecta / Barnes A.M. [et al.] // N Engl J Med. – 2006. – Vol. 355. – P. 2757-64.Detection of polymorphism of human DNA by gel electrophoresis as single cell conformation polymorphism /M. Orita [et al.] // Proc. Natl. Acad. Sci. – 1989. – V.86. – P. 2766-2770.Detection of polymorphism of human DNA by gel electrophoresis as single cell conformation polymorphism /M. Orita [et al.] // Proc. Natl. Acad. Sci. – 1989. – V.86. – P. 2766-2770.Evidence that abnormal high bone mineralization in growing children with osteoge-nesis imperfecta is not associated with specific collagen mutations /P. Roschger [et al.] // Calcif Tissue Int. – 2008. – V. 82 (4). – P. 263-270.Evidence that abnormal high bone mineralization in growing children with osteoge-nesis imperfecta is not associated with specific collagen mutations /P. Roschger [et al.] // Calcif Tissue Int. – 2008. – V. 82 (4). – P. 263-270.Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients /L. RiesLevavi [et al.] // Hum Mutat. – 2004. – V. 23(4). - P. 399-400.Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients /L. RiesLevavi [et al.] // Hum Mutat. – 2004. – V. 23(4). - P. 399-400.Mathew C.C. The isolation of high molecular weight eucariotic DNA// methods in molecular biology / Mathew C.C.; ED. Walker J.M. – N.Y.: Haman press. - 1984. - P. 31-34.Mathew C.C. The isolation of high molecular weight eucariotic DNA// methods in molecular biology / Mathew C.C.; ED. Walker J.M. – N.Y.: Haman press. - 1984. - P. 31-34.Molecular findings in Brazilian patients with osteogenesis imperfecta /F.C. Reis [et al.] // J. Appl. Genet. - 2005. - V. 46 (1). - P. 105-108.Molecular findings in Brazilian patients with osteogenesis imperfecta /F.C. Reis [et al.] // J. Appl. Genet. - 2005. - V. 46 (1). - P. 105-108.Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta / K-S. Lee [et al.] // Human Mutation. - 2006. Mutation in Brief #894 Online.Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta / K-S. Lee [et al.] // Human Mutation. - 2006. Mutation in Brief #894 Online.Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients / K. Kataoka [et al.] // Pediatrics international. – 2007. – V. 49. – P. 564-569.Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients / K. Kataoka [et al.] // Pediatrics international. – 2007. – V. 49. – P. 564-569.Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease /L.M. Ward [et al.] // Bone. - 2002. - V. 31. – P. 12–18.Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease /L.M. Ward [et al.] // Bone. - 2002. - V. 31. – P. 12–18.Roughley P.J. Osteogenesis imperfecta – clinical and molecular diversity / P.J. Roughley, F.Rauch, F.H. Glorieux // European Cells and Materials. - 2003 - V. 5. – P. 41-47.Roughley P.J. Osteogenesis imperfecta – clinical and molecular diversity / P.J. Roughley, F.Rauch, F.H. Glorieux // European Cells and Materials. - 2003 - V. 5. – P. 41-47.Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies /M. Pepin [et al.] // Prenat Diagn. – 1997. – V. 17(6). – P. 559-570.Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies /M. Pepin [et al.] // Prenat Diagn. – 1997. – V. 17(6). – P. 559-570.Tinkle B.T. A genetic approach to fracture epidemiology in childhood / B.T. Tinkle, R.J. Wenstrup // Am J Med Genet C Semin Med Genet. - 2005 – V. 139C(1). – P. 38-54.Tinkle B.T. A genetic approach to fracture epidemiology in childhood / B.T. Tinkle, R.J. Wenstrup // Am J Med Genet C Semin Med Genet. - 2005 – V. 139C(1). – P. 38-54.Willing M.C. Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains / M.C. Willing, S.P. Deschenes, R.L. Slayton, E.J. Roberts // Am J Hum Genet. – 1996. - V. 59(4). - P. 799-809.Willing M.C. Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains / M.C. Willing, S.P. Deschenes, R.L. Slayton, E.J. Roberts // Am J Hum Genet. – 1996. - V. 59(4). - P. 799-809.Witecka J. Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix /J.Witecka, A.M. Auguoeciak-Duma, A. Kruczek, A.Szydlo // J Appl Genet. - 2008. - V. 49(3). – P.283–295.Witecka J. Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix /J.Witecka, A.M. Auguoeciak-Duma, A. Kruczek, A.Szydlo // J Appl Genet. - 2008. - V. 49(3). – P.283–295.

The authors declare that there are no conflicts of interest present.