The Malm # { 246 } Polymorphism of Factor IX : Establishing the Genotypes by Rapid Analysis of DNA
نویسندگان
چکیده
A DNA polymorphism in the coding region of coagulation factor IX-potentially valuable for carrier detection. pronetel diagnosis. and population studies-was described in 1 985. It had been discovered with monoclonal antibodies that distinguish between threonine and alanine as the 1 48th residue of the peptide. Its use as a diagnostic tool has been limited because threonine-containing factor IX (Malm#{246}A) is dominant to alanine-containing factor IX (Malm#{246}B) in immunoassays of plasma; therefore. detection of Malm#{246} heterozygotes is not possible in all instances. A DNA method for recognizing all heterozygotes has been developed. but it also has limitations. We report the
منابع مشابه
The Malmö polymorphism of factor IX: establishing the genotypes by rapid analysis of DNA.
A DNA polymorphism in the coding region of coagulation factor IX--potentially valuable for carrier detection, prenatal diagnosis, and population studies--was described in 1985. It had been discovered with monoclonal antibodies that distinguish between threonine and alanine as the 148th residue of the peptide. Its use as a diagnostic tool has been limited because threonine-containing factor IX (...
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