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Hemophilia B is an X-linked disease caused by a functional deficiency in coagulation factor IX. A cDNA clone corresponding to factor IX has been 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 (greater than or equal to 20 kilobases) gene is detected. The gene has been 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 seven 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 establishment of a linkage map of the human X chromosome.
G Camerino, and
K H Grzeschik, and
M Jaye, and
H De La Salle, and
P Tolstoshev, and
J P Lecocq, and
R Heilig, and
J L Mandel
April 2012,
Acta naturae,
G Camerino, and
K H Grzeschik, and
M Jaye, and
H De La Salle, and
P Tolstoshev, and
J P Lecocq, and
R Heilig, and
J L Mandel
January 1990,
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G Camerino, and
K H Grzeschik, and
M Jaye, and
H De La Salle, and
P Tolstoshev, and
J P Lecocq, and
R Heilig, and
J L Mandel
March 2013,
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi,
G Camerino, and
K H Grzeschik, and
M Jaye, and
H De La Salle, and
P Tolstoshev, and
J P Lecocq, and
R Heilig, and
J L Mandel
November 1997,
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G Camerino, and
K H Grzeschik, and
M Jaye, and
H De La Salle, and
P Tolstoshev, and
J P Lecocq, and
R Heilig, and
J L Mandel
May 1984,
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G Camerino, and
K H Grzeschik, and
M Jaye, and
H De La Salle, and
P Tolstoshev, and
J P Lecocq, and
R Heilig, and
J L Mandel
July 1998,
Blood,
G Camerino, and
K H Grzeschik, and
M Jaye, and
H De La Salle, and
P Tolstoshev, and
J P Lecocq, and
R Heilig, and
J L Mandel
February 1989,
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G Camerino, and
K H Grzeschik, and
M Jaye, and
H De La Salle, and
P Tolstoshev, and
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R Heilig, and
J L Mandel
January 2001,
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G Camerino, and
K H Grzeschik, and
M Jaye, and
H De La Salle, and
P Tolstoshev, and
J P Lecocq, and
R Heilig, and
J L Mandel
June 1994,
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G Camerino, and
K H Grzeschik, and
M Jaye, and
H De La Salle, and
P Tolstoshev, and
J P Lecocq, and
R Heilig, and
J L Mandel
January 1989,
Human genetics,
