AI Article Synopsis
- The study aims to create a quick and straightforward genetic diagnosis method to detect hemophilia A carriers using specific genetic markers in Guangxi, China.
- Researchers employed fluorescent PCR and capillary electrophoresis to analyze three genetic loci associated with the FVIII gene in individuals from 10 hemophilia A families.
- They found that genetic analysis at these loci reliably identified carriers, enabling faster and more accurate prenatal diagnosis of hemophilia A.
Article Abstract
Objective: 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.
Methods: 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.
Results: 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.
Conclusions: 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.
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