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Heredity of Combined Deficiency of AHG and Proaccelerin
Author(s) -
Gobbi Franco
Publication year - 1966
Publication title -
scandinavian journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0036-553X
DOI - 10.1111/j.1600-0609.1966.tb01445.x
Subject(s) - heredity , dominance (genetics) , biology , globulin , genetics , gene , endocrinology
Antihaemophilic globulin and proaccelerin deficiencies coexisting in the same person have so far been thought to depend on a single recessive autosomal gene in the homozygous state. The study of two siblings (a female and a male) afflicted by antihaemophilic globulin and proaccelerin deficiency, the assay of the two factors in several members of their family, and a pedigree analysis, seem to lead to the conclusion that the two defects are inherited separately, with completely different patterns. Proaccelerin deficiency is inherited according to an autosomal incompletely dominant type of heredity, while antihaemophilic globulin deficiency is due to a recessive sex‐linked mutant gene. Genie interaction, inversion of the dominance or inactivation of the normal X‐chromosome in a carrier are the possible explanations for the severe antihaemophilic globulin deficiency in the proposita.