The X-linked blood group system Xg. Tests on unrelated people and families of northern European ancestry.

The X-linked blood group system Xg tests on British, Northern American, and northern European unrelated people and families.

Xg groups and sex abnormalities in people of northern European ancestry.

This paper presents a succession of tables with little comment. We are from time to time asked for the latest Xg score in certain categories of sex chromosome abnormalities and so hope some of the tables may be useful. The X-linked Xg blood group system was recognized late in 1961 (Mann et al, 1962). An account of its application, in the Blood Group Unit, to certain sex chromosome abnormalities...

X-linked recessive inheritance in the Ehlers-Danlos syndrome.

Two families are described in which the Ehlers-Danlos syndrome is apparently transmitted as an X-linked recessive character. The results of tests for the Xg blood groups and for colour vision show that the locus for the Ehlers-Danlos syndrome is not close to that for the Xg groups nor very close to the locus for deutan colour-blindness.The clinical features of this variety of the Ehlers-Danlos ...

Deficient Expression of Bruton's Tyrosine Kinase in Monocytes from X-Linked Agammaglobulinemia as Evaluated by a Flow Cytometric Analysis and its Clinical Application to Carrier Detection

Background: The B-cell defect in X-linked agammaglobulinemia (XLA) is caused by mutations in the gene for Bruton's tyrosine kinase (BTK). BTK mutations result in deficient expression of BTK protein in peripheral blood monocytes. Methods: Using the anti-BTK monoclonal antibody (48-2H), a flow cytometric analysis of intra cytoplasmic BTK protein expression in monocytes was performed to identify I...

Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: Results of a genome-wide association study

PURPOSE Corneal astigmatism is a common eye disorder characterized by irregularities in corneal curvature. Recently, the rs7677751 single nucleotide polymorphism (SNP) at the platelet-derived growth factor receptor alpha (PDGFRA) locus was found to be associated with corneal astigmatism in people of Asian ancestry. In the present study, we sought to replicate this finding and identify other gen...