...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Medical science monitor : >Strategy for prenatal diagnosis of osteogenesis imperfecta by linkage analysis to the type I collagen loci COL1A1 and COL1A2
【24h】

Strategy for prenatal diagnosis of osteogenesis imperfecta by linkage analysis to the type I collagen loci COL1A1 and COL1A2

机译：通过对I型胶原基因座COL1A1和COL1A2的连锁分析，对成骨不全症进行产前诊断的策略

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

To improve prenatal diagnosis of osteogenesis imperfecta (OI) in Lithuania, possibilities of indirect molecular genetic diagnosis were investigated in 11 families with dominant OI. Segregation of polymorphic DNA markers closely linked to COL1A1 and COL1A2 genes with OI phenotype was investigated. Polymorphic DNA markers applied were individual haplotypes constructed using a set of restriction enzyme sites within or close to the genes. Comparison of phenotypic features with the concordant collagen locus showed that in four pedigrees with OI Sillence type I segregated with COL1A1, while two pedigrees with OI Sillence type I and OI type IV segregated with COL1A2. Out of six remaining pedigrees with OI Sillence type I, three were concordant at both loci, two pedigrees were discordant at the locus COL1A2 and non-informative at the locus COL1A1 and one pedigree was concordant at the locus COL1A1 and non-informative at the locus COL1A2. Informativity of DNA markers applied was also investigated in the Lithuanian OI families. The frequencies of six restriction enzyme site dimorphisms in type I collagen loci were estimated and polymorphism information content (PIC) values were calculated for each restriction site and for a combination of three sites. COL1A1 locus dimorphisms A/MspI, B/RsaI and F/MnlI, showed PIC values of 0.327, 0.191 and 0.366, respectively, giving a combined PIC of 0.656 at the locus, while COL1A2 locus dimorphisms C/EcoRI, D/MspI and E/RsaI RFLPs had PIC values of 0.357, 0.168 and 0.331, respectively, giving a combined PIC of 0.655 at the locus.
机译：为了改善立陶宛成骨不全症（OI）的产前诊断，在11个OI占优势的家庭中研究了间接分子遗传学诊断的可能性。研究了与OI表型密切相关的COL1A1和COL1A2基因多态性DNA标记的分离。所应用的多态性DNA标记是使用在基因内或基因附近的一组限制性酶切位点构建的单个单倍型。表型特征与一致的胶原基因座的比较显示，在四个I型I型疾病与COL1A1隔离的谱系中，而两个OI型I型和IV I型OI与COL1A2隔离的谱系。其余六个OI I型疾病谱系中，三个位点在两个位点上是一致的，两个谱系在位点COL1A2上不一致，而在位点COL1A1上是非信息性的，一个谱系在位点COL1A1上是一致的，而在位点是非信息性的。 COL1A2。还对立陶宛OI家庭中使用的DNA标记的信息性进行了研究。估计I型胶原基因座中六个限制性酶位点二态性的频率，并针对每个限制性位点和三个位点的组合计算多态性信息含量（PIC）值。 COL1A1基因座A / MspI，B / RsaI和F / MnlI的PIC值分别为0.327、0.191和0.366，在该基因座处的PIC组合值为0.656，而COL1A2基因座C / EcoRI，D / MspI和E / RsaI RFLP的PIC值分别为0.357、0.168和0.331，在位点的组合PIC为0.655。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号