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Novel genetic hemophilia markers improve prenatal diagnosis.
2003 SEP 4 - (NewsRx.com & NewsRx.net) -- A series of novel genetic markers may improve prenatal hemophilia development.
"The heterogeneous nature of the mutations, the size, and the complexity of the factor VIII gene makes direct mutation analysis in hemophilia A families in India an option that is not very feasible and practical," scientists in New Delhi explained. "Thus, carrier screening and prenatal diagnosis of hemophilia A often depends on haplotype analysis using restriction fragment length polymorphisms (RFLP) and short tandem repeat (STR) markers to track the defective factor VIII gene within a family."
M.R. Chowdhury and colleagues at the All India Institute of Medical Sciences conducted a study "to assess the utility of using polymerase chain reaction (PCR)-based five polymorphic markers: four intragenic Hind III, Bcl I, intron 13, and intron 22 STRs and one extragenic marker St14 in prenatal diagnosis."
"Forty-one chorionic villus samples (CVS) were studied from 41 families with a history of hemophilia A. PCR and RFLP were used for screening," according to the report. "Intron 22 STR showed the highest informativeness (60.9%), followed by Hind III (51.2%), Bcl I (46.3%), and intron 13 STR ...
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Source: HighBeam Research, Novel genetic hemophilia markers improve prenatal diagnosis.