Application of STR genetic marker system in the detection of hemophilia A carriers in Guangxi, China / 中国当代儿科杂志

ABSTRACT

<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSIONS</b>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.</p>