Molecular Genetic Analysis On Thrombophilia In A Chinese Kindred

Thrombophilia is a kind of disease of hemostasis disfunction. The thrombophilia can be generally divided into two types according to the clinical symptom: spontaneous thromboembolism and frequently happenning thromboembolism. The risk of occurrence of thromboembolism is obviously very high for the victims when they are given a positive diagnosis in laboratory. Venous thromboembolism is the major form of thromboembolism, and the onset age is relatively young (<45 years old). Now there is no specific documents about thrombophilia epidemic of our country, while the data show that incidence rates for thrombophilia are up to 0.05% in western countries.Thrombophilia has two major patterns of inheritance, most of which is single gene disorder, including autosomal dominant(AD)and autosomal recessive(AR). Recently, 13 genes have been associated with AD thrombophilia according to pedigree investigation and study of molecular genetics.To study the relationship between the autosomal dominant thrombophilia gene loci and autosomal dominant thrombophilia in a Chinese kindred, twenty-six normal persons and seven patients in a autosomal dominant thrombophilia family were recruited. Genome scan method based on fluorescence labeled microsatellite markers with PCR(Polymerase Chain Reaction) system was used to identify locus responsible for autosomal dominant thrombophilia in the family. Twenty-five microsatellites on chromosome 1, 2, 3, 4, 5, 6, 7, 8, 11, 20 and 22 were used as genetic markers. Linkage analysis using Linkage 5.1 was performed. The LOD score was <-3 in all 25 microsatellites in the 11 chromosomes, indicating that there was no linkage between these markers and autosomal dominant thrombophilia related genes in this kindred. The autosomal dominant thrombophilia related genes in this kindred is located on a new chromosome region other than the known AD thrombophilia loci. The AD thrombophilia in the kindred may be resulted from a new gene.