• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Balkan journal of medical genetics: BJMG >MOLECULAR CHARACTERIZATION OF IRANIAN PATIENTS WITH INHERITED COAGULATION FACTOR VII DEFICIENCY
【24h】

MOLECULAR CHARACTERIZATION OF IRANIAN PATIENTS WITH INHERITED COAGULATION FACTOR VII DEFICIENCY

机译：伊朗遗传凝血因子VII缺乏的分子表征

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Coagulation factor VII (FVII) is a key enzyme of the extrinsic coagulation cascade that is predominantly produced by hepatocytes. The F7 gene mutations cause FVII deficiency with considerable molecular and phenotypic heterogeneity. We characterized the molecular alterations of the F7 gene and their corresponding mRNA transcripts in Iranian patients from eight unrelated families. The mutations were detected by polymerase chain reaction (PCR)-sequencing of all F7 gene exons, their flanking intronic sequences, as well as their corresponding cDNA fragments. Homozygous P303T, C91S and R304Q mutations were detected in patient 2, patient 5, and patient 6, respectively. Patient 7 was a compound heterozygote for S282R and H348R and patient 8 was a compound heterozygote for R304Q and IVS7+7AG mutations. Furthermore, our investigation revealed three heterozygous individuals, patient 1 and patient 3 with the A244V mutation who were symptomatic and patient 4 with V(-39) I mutation who was also asymptomatic. The F7 mRNA expression analysis revealed that, except the transcript of V(-39) I, other mutation-harboring transcripts were expressed at detectable levels. In conclusion, this report reinforces the genetic and phenotypic heterogeneity of FVII deficiency. The findings of the mRNA study implied that decreased FVII protein activity subsequent to missense mutations does not completely reflect the degradation of mutation-harboring mRNA.
机译：凝血因子VII（FVII）是主要由肝细胞产生的外在凝血级联的关键酶。 F7基因突变导致FVII缺乏，具有相当大的分子和表型异质性。我们的特征在于八个无关家庭的伊朗患者的F7基因的分子改变及其相应的mRNA转录物。通过聚合酶链反应（PCR）检测所有F7基因外显子，它们的侧翼内肠序列以及它们的相应cDNA片段来检测突变。在患者2，患者5和患者6中检测纯合P303T，C91S和R304Q突变。患者7是S282R的化合物杂合子，H348R和患者8是R304Q和IVS7 + 7a＆ g突变的化合物杂合子。此外，我们的调查揭示了三种杂合子个体，患者1和患者3，患有症状和患者4的A244V突变，v（-39）I突变是无症状的。 F7 mRNA表达分析显示，除了V（-39）I的转录物外，在可检测水平下表达其他突变的转录物。总之，本报告加强了FVII缺乏的遗传和表型异质性。 MRNA研究的发现暗示，在畸形突变后的FVII蛋白活性降低并未完全反映突变的mRNA的降解。

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