通过结合St14（DXS52）VNTR多态性和FVIII基因内（CA）n重复多态性诊断甲型血友病
[Diagnosis of hemophilia A by a combination of St14(DXS52) VNTR polymorphism and (CA)n repeat polymorphism within FVIII gene].
作者信息
Zhong Chang-gao, Li Lu-yun, Lu Guang-xiu
机构信息
Institute of Reproductive and Stem Cell Engineering, Central South University, Reproductive and Genetic Hospital of CITIC-XIANGYA, Changsha, Hunan, PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):80-2.
OBJECTIVE
To improve the accuracy and the diagnostic rate of gene diagnosis and prenatal gene diagnosis for hemophilia A (HA) families.
METHODS
Linkage analysis was performed by using St14(DXS52) VNTR polymorphism and intron 13 (CA)n repeat polymorphism of the factor VIII gene among HA families for indirect diagnosis.
RESULTS
The diagnostic rates using linkage analysis based upon one of the above mentioned two polymorphic loci among 9 HA families were 66.7% and 66.7%, respectively. The diagnostic rate rose to 88.9% by using a combination of the two polymorphic loci. Prenatal gene diagnoses were performed for 4 HA families. A wrong prenatal diagnosis which may happen when linkage analysis was performed by using only St14 VNTR was monitored.
CONCLUSION
The rapid and accurate gene diagnosis and prenatal gene diagnosis could be performed by a combination of the two polymorphic loci for about 90% HA families.
目的
提高甲型血友病（HA）家系基因诊断及产前基因诊断的准确性和诊断率。
方法
应用凝血因子Ⅷ基因的St14（DXS52）VNTR多态性和内含子13（CA）n重复多态性对HA家系进行连锁分析，以进行间接诊断。
结果
在9个HA家系中，基于上述两个多态性位点之一进行连锁分析的诊断率分别为66.7%和66.7%。联合使用这两个多态性位点时，诊断率升至88.9%。对4个HA家系进行了产前基因诊断。监测了仅使用St14 VNTR进行连锁分析时可能出现的错误产前诊断。
结论
联合使用这两个多态性位点可为约90%的HA家系快速、准确地进行基因诊断和产前基因诊断。
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