ABSTRACT
The pattern of inheritance of several X polymorphic markers is studied in the pedigree of a 46,XX true hermaphrodite. The results of the Xga, 12E7, and G6PD segregation analysis favour the hypothesis of a preferential inactivation of the paternally derived X chromosome.
Subject(s)
Disorders of Sex Development/genetics , Dosage Compensation, Genetic , Genetic Markers , Blood Group Antigens/genetics , Female , Glucosephosphate Dehydrogenase/genetics , H-Y Antigen/genetics , HLA Antigens/genetics , Humans , Karyotyping , Pedigree , Polymorphism, GeneticABSTRACT
H-Y antigen is a surface component associated with the heterogametic sex of various species and supposed to induce testicular differentiation. Genes controlling directly or not the expression of H-Y antigen and testicular differentiation have been localized on Y as well as on X chromosome and even autosomal chromosome. However the genetical localization of the H-Y structural gene remains unknown. We analysed the expression of H-Y antigen in three types of sexual dysgenesis (males bearing XX caryotype, testicular feminization syndrome and one case of hermaphroditism) to clarify the function and the genetics of this antigen.
