| 摘要 |
The method for diagnostics of hereditary thrombophilia caused by transformation abnormality of methionine in cystine is carried out by assaying of homocysteine level in blood of patients with arterial and vein thromboses. The clinicogenealogical analysis is additionally carried out and its relatives of the I relation degree (parents, children, sibs) who belongs to the risk group of cystathionine beta-synthetase deficiency and has the clinical presentations of arterial and vein thromboses, mentalretardation, convulsions, mental disorders, skeletal anomalies, subacute pancreatitis or lens inversion are recognized. Then the cystine level is assayed by the method of high-performance liquid chromatography in blood of patient and its relatives of the I relation degree. The hereditary thrombophilia caused by transformation abnormality of methionine in cystine is diagnosed in them if the cystine level is reduced on 50 % in relation to a normal level.
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