Zhou Jun-Li, Wei Hong-Ying, Wu Hua, Hu Yan-Ling, Liang Wei-Ling
Department of Pediatrics, First Affiliated Hospital of Guangxi Medical University, Nanning, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2012 Dec;14(12):951-5.
To establish a fast and simple genetic diagnosis technique based on a reliable, short tandem repeat (STR) genetic marker system for the detection of hemophilia A carriers in Guangxi, China.
Fluorescent PCR and capillary electrophoresis were used for allele genotyping at three intragenic/extragenic STR loci (F8Int13, DXS1073, and DXS9901) of FVIII gene in the members of 10 hemophilia A families in Guangxi, so as to evaluate the diagnostic efficiency of the STR genetic marker system for detection of hemophilia A carriers. Then the STR genetic marker system was used to detect hemophilia A carriers among examinees.
In the 10 hemophilia A families, 11 confirmed female carriers had the same allele fragment lengths at the three STR loci (F8Int13, DXS1073, and DXS9901) as the probands. Of the 8 females examined, 5 had allele fragments at the three STR loci (F8Int13, DXS1073, and DXS9901) which were identical to those of the probands, and thus they were diagnosed as hemophilia A carriers.
Genetic analysis at the three STR loci (F8Int13, DXS1073, and DXS9901) can be used to detect hemophilia A carriers rapidly and provide reliable basis for prenatal diagnosis of hemophilia A.
基于可靠的短串联重复序列（STR）基因标记系统，建立一种快速简便的基因诊断技术，用于检测中国广西地区的甲型血友病携带者。
采用荧光PCR和毛细管电泳技术，对广西10个甲型血友病家庭的成员进行FVIII基因3个基因内/基因外STR位点（F8Int13、DXS1073和DXS9901）的等位基因分型，以评估STR基因标记系统检测甲型血友病携带者的诊断效率。然后使用该STR基因标记系统检测受检者中的甲型血友病携带者。
在10个甲型血友病家庭中，11名确诊的女性携带者在3个STR位点（F8Int13、DXS1073和DXS9901）的等位基因片段长度与先证者相同。在8名受检女性中，5名在3个STR位点（F8Int13、DXS1073和DXS9901）的等位基因片段与先证者相同，因此被诊断为甲型血友病携带者。
对3个STR位点（F8Int13、DXS1073和DXS9901）进行基因分析可快速检测甲型血友病携带者，为甲型血友病的产前诊断提供可靠依据。
