摘要
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家系中的5个作出诊断,诊断率约为62.57%,且有2个家系同时伴有2个位点的突变。该8个家系11名可疑携带者中6名可作出携带者诊断,携带者的检出率为54.5%。结论:联合运用BclⅠ及HindⅢ位点进行HA患者家系分析可提高HA患者及携带者的诊断率。
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 bcl Ⅰ（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 polymorphisom（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 BclⅠand 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 BclⅠand HindⅢ sites for analysis of HA patient family can elevate the diagnostic rate of HA patients and carriers.
出处
《中国实验血液学杂志》
CAS
CSCD
2011年第1期189-192,共4页
Journal of Experimental Hematology
