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首页> 外文期刊>Acta Biochimica Polonica >Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III
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Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III

机译：与成骨缺陷型（OI）类型I或III相关的COL1A1和COL1A2基因中的突变

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Although over 85% of osteogenesis imperfecta (OI) cases are associated with mutations in the procollagen type I genes (COL1A1 or COL1A2), no hot spots for the mutations were associated with particular clinical phenotypes. Eight patients that were studied here, diagnosed with OI by clinical standards, are from the Polish population with no ethnic background indicated. Previously unpublished mutations were found in six out of those eight patients. Genotypes for polymorphisms (Sp1 - rs1800012 and PvuII - rs412777), linked to bone formation and metabolism were determined. Mutations were found in exons 2, 22, 50 and in introns 13 and 51 of the COL1A1 gene. In COL1A2, one mutation was identified in exon 22. Deletion type mutations in COL1A1 that resulted in OI type I had no effect on collagen type I secretion, nor on its intracellular accumulation. Also, a single base substitution in I13 (c.904-9 GT) was associated with the OI type I. The OI type III was associated with a single base change in I51 of COL1A1, possibly causing an exon skipping. Also, a missense mutation in COL1A2 changing Gly - Cys in the central part of the triple helical domain of the collagen type I molecule caused OI type III. It affected secretion of the heterotrimeric form of procollagen type I. However, no intracellular accumulation of procollagen chains could be detected. Mutation in COL1A2 affected its incorporation into procollagen type I. The results obtained shall help in genetic counseling of OI patients and provide a rational support for making informed, life important decisions by them and their families.
机译：虽然超过85％的成骨发生不完全（OI）病例与普通胶原型I基因（COL1A1或COL1A2）中的突变相关，但是突变的热点与特定的临床表型相关。通过临床标准诊断患有OI的八名患者，来自波兰人口，没有种族背景。在这8名患者中有六个中发现了以前未发表的突变。确定多态性的基因型（SP1 - RS1800012和PVUII - RS412777），与骨形成和代谢相连。在COL1A1基因的外显子2,22,50和内含子13和51中发现突变。在COL1A2中，在外显子22中鉴定了一个突变。COL1A1中的缺失类型突变导致OI型I对I II型分泌的影响，也没有对其细胞内积累的影响。此外，I13中的单个基础取代（C.904-9 G＆GT; T）与OI型I相关联。II型III与COL1A1的I51中的单个基础变化相关联，可能导致外显子跳跃。此外，Col1A2中的畸形突变变化了GLY - ＆GT;胶原型I分子的三螺旋结构域中的中央部分的CYS引起了II型II II。它影响了异源型形式的前胶原型I的分泌。然而，可以检测到未经胶原链的细胞内积累。 COL1A2的突变影响其掺入ProCollagen I型。获得的结果应有助于OI患者的遗传咨询，并为其提供知情，生活的重要决策并提供合理的支持。

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