Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus).

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Abstract
Hemophilia B is an X-linked disease caused by a functional deficiency in coagulation factor IX. A c[complementary]DNA clone corresponding to factor IX was used to detect homologous sequences in the human genome. All DNA fragments hybridizing to the probe, under medium- or high-stringency conditions, are X-linked, and the patterns obtained suggest that a single large (.gtoreq. 20 kilobases) gene is detected. The gene was mapped to the q26-q27 region of the long arm of the X chromosome by hybridization to DNA from a panel of human-mouse hybrid cell lines. A search for restriction fragment length polymorphisms using 7 restriction enzymes has led to the detection of a Taq I polymorphism, with allelic frequencies of about 0.71 and 0.29. This genetic marker should be useful for the detection of carriers of the hemophilia B trait and for prenatal diagnosis in informative families and, more generally, for the establish of a linkage map of the human X chromosome.

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