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Spontaneous mutation in the male gamete as a cause of hemophilia A: Clarification of a case using DNA probes
Author(s) -
Howard Phillip L.,
Hoag Jennifer B.,
Bovill Edwin G.,
Heintz Nicholas H.
Publication year - 1988
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830280307
Subject(s) - genetics , locus (genetics) , gamete , complementary dna , x chromosome , dna , index case , family history , mutation , biology , microbiology and biotechnology , chromosome , gene , medicine , disease , sperm
The carrier status of two sisters of the mother of a hemophilic boy was clarified by the use of DNA probes in a family with a single case of hemophilia A and no family history of the disease. The extragenic polymorphic site demonstrated by probe DX13 (locus DXS 15) and the intragenic polymorphic site demonstrated by Bgl I digestion and a factor VIII partial cDNA probe indicated that the mother of the index case carried a mutation in the X‐chromosome received from her nonhemophilic father rather than the X‐chromosome received from her mother. In spite of equivocal coagulation data, the mother's two sisters were shown not to be carriers of hemophilia A.