| Bcl I和Hind Ⅲ位点在家系性血友病A基因诊断的意义 |
| Alternative Title | Significance of BclI and HindIII polymorphism detection in genetic diagnosis of familial hemophilia A
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| 乔秀强; 李燕平; 曾蕾; 陈燕; 韩夏 |
| 2011-02-20
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| Source Publication | 中国实验血液学杂志
 |
| ISSN | 1009-2137
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| Volume | 19Issue:1Pages:189-192 |
| Abstract | 本研究旨在探讨FⅧ基因内含子18的BclⅠ及内含子19的HindⅢ多态性位点在血友病A(haemophiliaA,HA)患者及家系成员的基因诊断与携带者检出中的应用价值。对8个HA患者及其家系成员45人运用聚合酶链反应-限制性片断多态性(polymerase chain reaction restriction fragment length polymorphism,PCR-RFLP)方法对X染色体FⅧ基因内含子18的BclⅠ及内含子19的HindⅢ位点进行多态性分析。应用中国遗传咨询网在线家系图绘制工具PediDraw软件绘制家系图。结果表明,联合检测BclⅠ及HindⅢ位点可对8个HA家... |
| Other Abstract | This study was aimed to investigate the suitability of FVIII gene BclI (intron 18)and HindIII (intron 19) site polymorphism for genetic diagnosis of patients with hemophilia A (HA) and their families, and for detection of carriers. The FVIII gene bclI (intron 18) and HindIII (intron 19) site polymorphism on the X chromosome of 8 patients with HA and 45 families members were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), the pedigree of patients was drawn by means of PediDraw software online provided by China Genetic Counseling Network. The results indicated that combination detection of BclI and HindIII sites could provide the diagnosis information for 5 out of 8 HA families with diagnostic ratio of 62.57%, especially 2 HA families were accompanied by mutation of 2 sites. Besides, the definite diagnosis for 6 out of 11 suspicious carriers in 8 families could be made with diagnostic ratio of 54.5%. It is concluded that the combination detection of BclI and HindIII sites for analysis of HA patient family can elevate the diagnostic rate of HA patients and carriers. |
| Keyword | 血友病A
BclⅠ位点
HindⅢ位点
基因诊断
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| Subject Area | Genetics & Heredity
; Hematology
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| Publication Place | Beijing
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| Indexed By | PubMed
; MEDLINE
; CSCD
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| Language | 中文
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| First Inst | 是
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| Host of Journal | 中国病理生理学会
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| CSCD ID | CSCD:4339292
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| PMID | 21362249
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| IRID | CNKI:0048126
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| Department | 兰州大学第一医院检验科;兰州大学第一医院妇产科;兰州大学第二临床医学院 |
| Citation statistics |
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| Document Type | 期刊论文
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| Identifier | https://ir.lzu.edu.cn/handle/262010/168248
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| Collection | 第一临床医学院
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Recommended Citation
GB/T 7714 |
乔秀强,李燕平,曾蕾,等. Bcl I和Hind Ⅲ位点在家系性血友病A基因诊断的意义[J].
中国实验血液学杂志,2011,19(1):189-192.
|
| APA |
乔秀强,李燕平,曾蕾,陈燕,&韩夏.(2011).Bcl I和Hind Ⅲ位点在家系性血友病A基因诊断的意义.中国实验血液学杂志,19(1),189-192.
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| MLA |
乔秀强,et al."Bcl I和Hind Ⅲ位点在家系性血友病A基因诊断的意义".中国实验血液学杂志 19.1(2011):189-192.
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