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JMD 2003, Vol. 5, No. 4
Copyright © 2003 American Society for Investigative Pathology & Association for Molecular Pathology

Consultations in Molecular Diagnostics

Prothrombin Gene Variants in Non-Caucasians with Fetal Loss and Intrauterine Growth Retardation

Iris Schrijver*{dagger}, Tiffanee J. Lenzi{ddagger}, Carol D. Jones*, Marla J. Lay{dagger}, Maurice L. Druzin{ddagger} and James L. Zehnder*{dagger}

From the Department of Pathology, * the Molecular Pathology Laboratory, {dagger} and the Department of Obstetrics and Gynecology, {ddagger} Stanford University Medical Center, Stanford, California

Abstract

Thrombotic predisposition may affect pregnancy outcome, but in non-Caucasians the contributing genetic factors are poorly characterized. Two recently identified prothrombin gene mutations (20209C>T and 20221C>T) have been observed in non-Caucasian patients with thrombosis. The mutations are located near the commonly identified variant 20210G>A and have not been reported in Caucasian patients. The authors report a novel connection with pregnancy complications. The identification of sequence variants other than 20210G>A in the 3'-untranslated region of the prothrombin gene suggests that additional nucleotide substitutions may contribute to the development of thrombotic events and adverse pregnancy outcomes, especially in less well-characterized populations.




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C. G. Tag, M.-C. Schifflers, M. Mohnen, A. M. Gressner, and R. Weiskirchen
Atypical Melting Curve Resulting from Genetic Variation in the 3' Untranslated Region at Position 20218 in the Prothrombin Gene Analyzed with the LightCycler Factor II (Prothrombin) G20210A Assay
Clin. Chem., August 1, 2005; 51(8): 1560 - 1561.
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