An unknown genetic defect increases venous thrombosis risk, through interaction with protein C deficiency

Article Abstract:

An unknown genetic defect has been found to increase venous thrombosis risk in interaction with protein C deficiency. Two-locus segregation analysis was used to test for this situation in one large pedigree. The interacting gene, when inherited with protein C deficiency, gave a probability of 79% for a thrombotic episode before age 60 years for men and 99% for women. Protein C is a vitamin K-dependent glycoprotein that cleaves, if activated, to procoagulant protein factor V, making V inactive.

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Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia

Article Abstract:

Epimerase-deficiency galactosemia is the result of impairment of the human enzyme UDP-galactose-4-epimerase (hGALE). Substitution mutations have been identified in the hGALE alleles of patients with the clinically mild, peripheral epimerase deficiency. The first identification of an hGALE mutation in a patient with the clinically severe, generalized epimerase deficiency has been made. V94M was found on both GALE alleles.

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Genetics of vitamin D 1-alpha-hydroxylase deficiency in 17 families

Article Abstract:

Vitamin D-dependent rickets type I (VDDR-I), known also as pseudo-vitamin D-deficiency rickets and common in French Canadians, is discussed. Apparently this type of rickets is the result of deficiency of renal vitamin D 1-alpha-hydroxylase activity, and 12 new mutations found in 17 families from eight ethnic groups are described with other findings.

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