Эпидемиологическое и молекулярно-генетическое исследование несовершенного остеогенеза
Диссертация
У больных, НО в гене COLI AI было выявлено 17 различных однонуклеотидных полиморфных вариантов (SNP), 3 из которых расположены в промоторном регионе, 13 — в интронных участках и 1- в экзонной области гена COL1A1. Для определения функциональной значимости полиморфных вариантов в развитии заболевания нами был проведен сравнительный анализ распределения частот аллелей и генотипов между больными… Читать ещё >
Список литературы
- Галеева Н.М., Назаренко Л. П., Назаренко С. А. Молекулярно-генетическая причина наследственной метгемоглобинемии первого типа в Якутии // Мед.генетика.- 2006. Т. 5. —С. 15−20.
- Генофонд и геногеография народонаселения // Под ред. Ю. Г. Рычкова. Т.1. Генофонд населения России и сопредельных стран. СПб.: Наука, 2000. 611с.
- Гоголев А.И. Этническая история народов Якутии (до начала XX в.): Якутск, изд. ЯГУ, 2004.- 104с.
- Иллариошкин С.Н., Руденская Г. Е., Иванова-Смоленская И.А. и др. Наследственные атаксии и параплегии // М.: МЕДпресс-информ. —2006.-416с.
- Кадурина Т.И. Наследственные коллагенопатии (клиника, диагностика, лечение и диспансеризация). СПб: Невский Диалект. -2000. -271с
- Максимов Г. Н. Родная Якутия: Природа, люди, природопользование. Якутск: Бичик.- 2003. -168с.
- Попова С.Н., Сломинский П. А., Галушкин С. М. и др. Анализ аллельного полиморфизма триплетных повторов (CTG)n и (CAG)n в генах DM, DRPLA и SC AI в различных популяциях России // Генетика. 2002. — Т. 38,-№ 11.- С. 1549−1553.
- Пузырев В.П. Генетика мультифакториальных заболеваний: между прошлым и будущим // Мед. генетика. 2003. — Т. 2. — № 12.- С.498−508.
- Пузырев В.П., Максимова Н. Р. Наследственные болезни у якутов // Генетика. -2008.- Том 44. № 10.- С. 1308−1314.
- Пузырев В.П., Фрейдин М. Б., Кучер A.H. Генетическое разнообразие народонаселения и . болезни человека // Томск: Печатная мануфактура.- 2007.- 320с.
- Степанов В.А. Этногеномика населения Северной Евразии. Томск: Печатная мануфактура. 2002. — 244с.
- Федорова CA., Хусаинова P.M., Кутуев И. А. и др. Полиморфизм (CTG)-noBTopoB гена миотонинпротеинкиназы в популяциях Республики Саха (Якутия) и Средней Азии // Молекулярная биология. 2005. — Т. 39. — № 3. — С.385−393.
- Aarabi М., Rauch F., Hamdy R.C., Fassier F. High prevalence of coxa vara in patients with severe osteogenesis imperfecta // J Pediatr Orthop. -2006. Vol. 26. — P. 24−28.
- Alanay Y., Avaygan H., Camacho N., Utine G. E., Boduroglu K. et.al. Mutations in- the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta // The American Journalof Human Genetics. -2010. -V.86. -P.551−559.
- Anum E.A., Hill L.D., Pandya A., Strauss J.F. Connective Tissue and Related Disorders and Preterm Birth: Clues to Genes Contributing to Prematurity // Placenta. 2009. — Vol. 30. — P. 207−215.
- Baldridge D., Schwarze U., Morello R., Lennington J., Bertin T. K., Pace J.M., et.al. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta // Hum Mutat. 2008. — P. 1435−1442.
- Barnes A.M., Carter E.M., Cabral W.A. et al. Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding // The new england journal of medicine. 2010. -V.362. — P.521−528.
- Barnes A.M., Chang W., Morello R., Cabral W.A., Weis M., Eyre D.R., Leikin S. et al. Deficiency of Cartilage-Associated Protein in Recessive Lethal Osteogenesis Imperfecta // N Engl J Med. 2006. — Vol. 355. — P. 2757−64.
- Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps // Bioinformatics. 2005. -21(2). -P. 263−265.
- Ben Amor I. Mouna, Glorieux Francis H., Rauch Frank. Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta // Journal of Osteoporosis. 2011. — P. 9.
- Benusiene E, Kucinskas V. COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfect // J Appl Genet. 2003. — V.44(l). — P. 95−102.
- Breslau-Siderius E.J., Engelbert R.H., Pals G., Van der Sluijs J*.A. Bruck syndrome: a rare combination of bone fragility and multiple congenitaljoint contractures // J Pediatr Orthop B. 1998. — Vol. 7. — P. 35−38. «
- Byers P.H. Oseogenesis imperfecta: perspective and opportunities // Curr Opin Pediatr. 2000. — P. 603−609.
- Byers P.H. Osteogenesis imperfecta. In: Royce PM, Steinmann B, eds. Connective tissue and its heritable disorders: molecular, genetic and medical aspects. New York. -Wiley-Liss. — 1992. — P. 317−350.
- Byers P.H., Krakow D., Nunes M.E., Pepin M. Genetic evaluation of suspected osteogenesis imperfecta (OI) // Genet Med. 2006. — Vol. 8. — P. 383−388.
- Byers P.H., Steiner R.D. Osteogenesis imperfecta // Annu Rev Med. -1992.-Vol. 43.-P. 269−282.
- Byers P.H., Wallis G.A., Willing M.C. Osteogenesis imperfecta: translation of mutation to phenotype // J Med Genet. — 1991. Vol. 28. -P. 433−442.
- Cabral W.A., Marini J.C. Hihg proportion of mutant osteoblast is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta. Am.J.Hum.Genet. 2004. — Vol. 7. — P. 752−760
- Chan TF, Poon A, Basu A, Addleman NR, Chen J, Phong A, Byers PH, Klein TE, Kwok PY. Natural variation in four human collagen genes across an ethnically diverse population // Genomics. — 2008. Vol. 91(4). -P. 307−14.
- Cheung M.S., Glorieux F.H. Osteogenesis Imperfecta: Update on presentation and management // Rev Endocr Metab Disord. — 2008. Vol. 9.-P. 153−160
- Cinman N. Osteogenesis imperfecta. A life not so fragile // Lancet 358 Suppl: S46.-2001.
- Cole D.E., Carpenter T.O. Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta // J Pediatr. — 1987. — Vol. 110.-P. 76−80.
- Cole WG, Dalgleish R. Perinatal lethal osteogenesis imperfecta // J Med Genet.- 1995.-Vol.32.-P. 284−289.
- Cooper C., Dennison E.M., Leufkens H.G., Bishop N.,. Van Staa T. P: Epidemiology of childhood fractures in Britain: a study using the general' practice research database // J Bone Miner Res.- 2004. -Vol. 19.- P.-1976−1981.
- Cubert R, Cheng E.Y., Mack S., Pepin M: G., Byers P.H. Osteogenesis imperfecta: mode of delivery and neonatal outcome // Obset Gynecol. 2001. Vol. 97(1).-P. 66−9.
- Engelbert R. H, Pruijs H.E.-, Beemer F.A., Helders P.J. Osteogenesis imperfecta in childhood: treatment strategies // Arch Phys Med Rehabil.1998. Vol. 79. — P. 1590−1594.
- Epstein M.P., Satten G.A. Inference on haplotype effects in case-control studies using unphased genotype data // Am. J. Hum. Genet. 2003. — Vol.73.-P. 1316−1329.
- Fleisch H. Bisphosponates: mechanisms of action // Endocr Rev. — 1998. -Vol. 19.-P. 80−100.
- Forlino A, Cabral WA, Barnes AM, Marini JC. New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol. -2011. -Vol. 7(9). P. 54 057.
- Fraser R.D.B., MacRae T.P. and Suzuki E., Chain conformation in the collagen molecule // J. Mol. Biol. 1979. — Vol. 129. — P. 463−481.
- Fujino Т., Morii Т., Tajima Т., Honya K., Horita A., Mochizuki K., Fusioka K.S. Sporadic osteogenesis imperfecta type V in an 11-year-old Japanese girl. // J Orthop Sci. 2010. — Vol. 15. — P. 589−593.
- Gajko-Galicka A. Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans // Acta Biochimica Polonica.- 2002. -Vol. 49.-No. 2.-P. 433−441.
- Garcia-Giralt N, Enjuanes A, Bustamante M et al. In vitro functional assay of alleles and haplotypes of two COL1A1- promoter SNPs // Bone. 2005. -Vol. 36. -№ 5. P. 902−908.
- Gat-Yablonski Galia, Ries Liat, Lev Dorit, Goldman Boleslaw, Friedman
- Eitan. A missense mutation in Collai in a Jewish Israeli patient with mild osteogenesis imperfecta, detected by DGGE // Hum Genet. -1997.-Vol. 101.-P. 22−25.
- Glorieux F.H., Bishop N.J., Plotkin H., Chabot G., Lanoue G., Travers R. Cyclic administration of pamidronate in children with severe osteogenesis imperfecta // N Engl J Med. 1998. — Vol. 339. — P. 947−952.
- Glorieux F.H., Rauch F., Plotkin H., Ward L., Travers R., Roughley P., et al. Type V osteogenesis imperfecta- a new form of brittle bone disease // J Bone Miner Res. 2000. — Vol. 15. — P. 1650−1658
- Glorieux F.H., Ward L.M., Rauch F., Lalic L., Roughley P.J., Travers R. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect // J Bone Miner Res. 2002. — Vol. 17. — P. 30−38.
- Glorieux Francis H. Caffey disease: an unlikely collagenopathy // The Journal of Clinical Investigation. 2005.- Vol. 115.
- Goldfarb L.G., Vasconselos O., Platonov F.A. et al. Unstable triplet and phenotypic variability of spinocerebellar ataxia type 1 // Ann. Neurol. — 1996. Vol. 39. — P. 500−506.
- Grant S.F., David M. Reid, Glen Blake et al. Reduced bone density and osteoporosis associated with a polymorphic Spl binding site in the collagen type I a 1 gene//Nature genetics. 1996. Vol.14. P.203−205
- Huilin Jin, Rob J. van’t Hof, Omar M.E. Albagha and Stuart H. Ralston. Promoter and intron 1 polymorphisms of COL1A1 interact to regulate transcription and susceptibility to osteoporosis // Human Molecular Genetics.-2009. — Vol. 15. P. 2729−2738.
- Ishikawa, Y., Wirz, J., Vranka, J. A., Nagata, K. & Bachinger, H. P. Biochemical characterization of the prolyl 3-hydroxylase 1, cartilage-associated protein, cyclophilin B complex // J. Biol. Chem.- 2009.- Vol. 284.-P. 17 641−17 647.
- Kataoka K., Ogura E., Hasegawa K., Inoue M., Seino Y., Morishima T., Tanaka H. Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients // Pediatrics international. 2007. — Vol. 49. — P.564.569.
- Koay M.A., Brown M.A. Genetic disorders of the LRP5-Wnt signalling pathway affecting the skeleton // Trends Mol Med. 2005. Vol. 11. — P. 129−37.
- Kuurila, K., Grenman, R., Johansson, R. & Kaitila, I. Hearing loss in children with osteogenesis imperfecta // Eur. J. Pediatr. — 2000. Vol. 159.-P. 515−519.
- Kuurila, K., Kaitila, I., Johansson, R. & Grenman, R. Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide survey I I Ann. Otol. Rhinol. Laryngol. 2002. — Vol. 111.- P. 939−946.
- Labuda M., Morissette J., Ward L.M., Rauch F., Lalic L., Roughley P.J., Glorieux F.H. Osteogenesis imperfecta type VII maps to the short arm of chromosome 3 // Bone. 2002. — Vol. 31(1). — P. 19−25.
- Landin LA. Fracture patterns in children. Analysis of 8,682 fractures with special reference to incidence, etiology, and secular changes in a Swedish urban population 1950−1979 // Acta Orthop Scand Suppl. 1983.-Vol. 202.-P. 1−109.
- Lee K.H., Kuczera K., Holl M.M. Effect of osteogenesis imperfecta mutations on free energy of collagen model peptides: — a molecular dynamics simulation//Biophys Chem. 20IT. — Vol. 156(2−3). -P. 1.4652. ' ¦¦'» — ' ¦. — ':. '
- Lee K-S., Song H-R., Clio. T-J., et al. Mutational spectrum- of type 1• collagen genes in Korean patients with osteogenesis imperfecta// Human
- Mutation.- 2006. Mutation in Brief.#894 Online:
- Liu P, Lu Y, Long J, Xu F, Shen H, Recker R,.Deng H. Common variants at the PCOL2 and' SpL binding sites- of the COL1 Al gene and- their — interactive effect influence bone mineral density in Caucasians // J Med Genet. -20 041 -Vol: 41.-P. 752−757.
- Liu W., Gu F., Ji J., Lu D., Li X., Ma X. A novel COL 1A1 nonsense mutation causing osteogenesis, imperfecta in a Chinese family // Molecular Vision: — 2007. VoL 13: — P. 360−65 .
- Maksimova N., Hara K., Miyashita et al. Clinical, molecular and histopathological featurea of short stature syndrome with novel CUL7 Mutation in Yakuts: new population isolate in Asia // J. Med. Genet. -2007. Vol. 44. — P. 772−778.
- Mann V, Hobson EE, Li B, Stewart TL et al A COL1A1 Spl binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality // J Clin Invest.- 2001. Vol.107. -№ 7. — P. 899−907.
- Marini, J. C., Cabral, W. A. & Barnes, A. M. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta // Cell Tissue Res.- 2009. Vol. 339. — P. 59−70.
- Martin E., Shapiro J.R. Osteogenesis Imperfecta: Epidemiology and Pathophysiology // Current Osteoporosis Reports. 2007. — Vol. 5. — P. 91−97.
- Mathew C.C. The isolation of high molecular weight eucariotic DNA// methods in molecular biology / ED. Walker J.M. N.Y.: Haman press. -1984.-P. 31−34.
- Munns C.F., Rauch F., Travers R., Glorieux FH. Effects of intravenous pamidronate treatment in infants with osteogenesis imperfecta: clinical and histomorphometric outcome // J Bone Miner Res. 2005. — Vol. 20. -P. 1235−43.
- National Institutes of Health Osteoporosis and Related Bone Diseases ~ National Resource Center. Osteogenesis Imperfecta Overview. http://www.niams.nih.gov/HealthInfo/Bone/OsteogenesisImperfecta/de fault, asp
- Orita M, Jmahana H. Kanazawa H. Et.al. Detection of polymorphism of human DNA by gel electrophoresis as single cell conformation polymorphism // Proc. Natl. Acad. Sci. 1989. — Vol.86. — P. 2766−2770.
- Paterson, C. R., Monk, E. A. & McAllion, S. J. How common is hearing impairment in osteogenesis imperfecta? // J. Laryngol. Otol. — 2001. -Vol. 115.-P. 280−282.
- Plotkin H., Rauch F., Bishop N.J., Montpetit K., Ruck-Gibis J., Travers R., Glorieux F.H. Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age // J Clin Endocrinol Metab. -2000.-Vol. 85.-P. 1846−1850.
- PollittR., McMahonR., Nunn J., BamfordR., Afiff A., BishopN., Dalton
- A. Mutation analysis of COL 1A1 and COL 1A2 in patients diagnosed with osteogenesis imperfecta type I-IV // Human Mutation Mutation.- 2006. -Vol. 27 (7). P. 716.
- Prockop D.J. and Kivirikko K.I. Collagens: molecular biology diseases and. potentials for therapy // Annu. Rev. Biochem.- 1995. Vol. 64. — P. 403−434.
- Prockop D.J., Chu M.L. Collagen: gene structure. In:.- Royce PM, Steinmann B, ed. Connective tissue and its heritable disorders- 1st ed. New York: Wiley-Liss. 1993. — P. 149 -167
- Rauch F., Gloneux E. H: Osteogenesis imperfecta // Lancet. 2004'. — Vol. 363.-P. 1377−85.: ,
- Rauch F., Plotkin H, Zeitlin L., Glorieux F.H. Bone mass, size and density in children and: adolescents with-, osteogenesis imperfecta: Effect of intravenous Pamidronate therapy // J Bone Miner Res. 2003. — Vol. 18.-P. 610−614.
- Rauch?F, Traverse R, Norman M.E., Taylor A., Parfitt A. M, Glorieux F. Hi Deficient bone formation, in idiopathic juvenile osteoporosis: a histomorphometric study of cancellous iliac bone // J Bone Miner Res. — 2000. Vol. 15. — P. 957−63.
- Redford-Badwal D-A., Stover M.L., Valli M. et al. Nuclear retention, of COLI A1 messenger RNA identifies null alleles causing mildosteogenesis imperfect // J Clin Invest. 1996. — V.15. — 1035−1040.
- Reis F.C., Alexandrino F., Steiner C.E., Norato D. Y J., Cavalcanti D. P., Sartorato E. L. Molecular findings in Brazilian patients with osteogenesis imperfecta// J. Appl. Genet. 2005. -V. 46 (1).- P.105−108.
- Rich A. and Crick F.H.C. The molecular structure of collagen // J. Mol. Biol. 1961. Vol. 3. -P. 483−506.
- Ries-Levavi L., Ish-Shalom T., Frydman M. et al. Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients // Hum Mutat. 2004. — V. 23(4). — P. 399−400.
- Roschger P., Fratzl-Zelman N., Misof B.M. et al. Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations // Calcif Tissue Int. 2008. — V. 82 (4). — P. 263−270.
- Roughley P.J., Rauch F., Glorieux F.H. Osteogenesis imperfecta — clinical and molecular diversity // European Cells and Materials. 2003 — Vol. 5. — P. 41−47.
- Scheer U., Hinssen H., Franke W.W., Jockusch B.M. Microinjection of actin-binding proteins and actin antibodies demonstrates involvement of nuclear actin in transcription of lampbrush chromosomes // Cell. — 1984. -Vol. 39.-P. 111−122.
- Shaheen R, Al-Owain M, Sakati N, Alzayed ZS, Alkuraya FS. FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification? // Am J Hum Genet.- 2010. Vol. 87(2). — P. 306−7.
- Sillence D.O., Senn A., Danks D.M. Genetic heterogeneity in osteogenesis imperfecta // J Med Genet. 1979. — Vol. 16(2). — P. 101−16.
- Slayton R.L., Deschenes S.P., Willing M.C., Nonsense mutations in the
- Stewart TL, Roschger P, Misof BM, Mann V et al. Association of COLTA1 Spl, alleles with defective bone nodule formation’in vitro and abnormal bone mineralization in vivo // Calcif Tissue Int. 2005. -Vol.77. — P.113−118.
- Swinnen K.R., De Leenheer M.R., Coucke P.J., Cremers W.R.J., Dhooge J.M. Audiometrie, surgical, and genetic finding in 15 ears of patients with osteogenesis imperfecta // The American Laryngological. 2009.
- Thompson E. M:, Young I. D-, Hall C.M., Pembrey M.E. Recurrence risksand prognosis in severe sporadic osteogenesis imperfecta // Journal of Medical Genetics.- 1987. Vol. 24. — P. 390−405.
- Van der Slot A J, Zuurmond AM, Bardoel AF, Wijmenga C, Pruijs HE, Sillence DO, Brinckmann J, Abraham DJ, Black CM, Verzijl N, DeGroot
- J, Hanemaaijer R, TeKoppele JM, Huizinga TW, Bank RA. Identificationiof PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis // J Biol Chem. 2003. — Vol. 278(42). — P. 40 967−72.
- Van Dijk FS, Cobben JM, Pals G. Osteogenesis imperfecta, normal collagen folding, and lack of cyclophilin B // N Engl J Med. 2010. — V. 362(20).-P. 1940−1941.
- Venturi G., Tedeschi E., Mottes M. et al. Osteogenesis imperfecta: clinical, biochemical and molecular findings // Clin Genet. 2006. — V. 70(2).-P. 131−139.
- Vranka, J. A., Sakai, L. Y. & Bachinger, H. P. Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes // J. Biol. Chem. 2004.- Vol. 279. — P. 23 615−23 621.
- Ward L.M., Rauch F., Travers R., Chabot G., Azouz E.M., Lalic L. et al.
- Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease//Bone. 2002. — Vol. 31. — P. 12−18.
- Weis, M. A. et al. Location of 3-hydroxyproline residues in collagen types, I, II, III, and V/XI implies a role in fibril supramolecular assembly // J. Biol. Chem.- 2009. Vol. 285.- P. 2580−2590.
- Willing M.C., Deschenes S.P., Scott D.A., Byers P.H., Slayton R.L., Pitts S.H., et al. Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles // Am J Hum Genet. 1994. — Vol. 55. — P. 638 647.
- Willing M.C., Deschenes S.P., Slayton R.L., Roberts E.J. Premature chain termination- is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains // Am J Hum" Genet. — 1996. -V. 59(4). P. 799−809.
- Witecka J., Auguoeciak-Duma A.M., Kruczek A., Szydlo A. Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix // J Appl Genet. 2008. -Vol. 49(3).-P. 283−295.
- Yamada Y., Ando F., Niino N., Shimokata H. Association of a -1997G—"T polymorphism of the collagen Ialphal gene with bone mineral density in postmenopausal Japanese women // Hum. Biol. 2005.-Vol. 77.-P. 27−36.
- Yoneyama T., Kasuya H., Onda H., Akagawa H., Hashiguchi K., Nakajima T., Hori T. and Inoue I., Collagen type I alpha2 (COL1A2) is the susceptible gene for intracranial aneurysms // Stroke. 2004.- Vol. 35.- P. 443−448.
- Z. Yang,' Z.F. Ke, C. Zeng, Z. Wang, H.J. Shi and L.T. Wang. Mutation characteristics in type I collagen gene in Chinese patients with osteogenesis imperfecta. Genetics and Molecular Research. 2011. — Vol. 10(1).-P. 177−185.