| Background and Objectives: Being one of the three most common world death causes, cerebrovascular disease (CVD) is severely threatening people's life nowadays. CVD is a kind of very complex diseases caused by several genetic and environmental factors and high risk environmental factors of CVD include hypertension, hyperlipemia, diabetes melJitus, heart diseases, atherosclerosis and blood abnormalities, which are all associated with heredity. The epidemiology study of stroke in twins, families and different nationalities and areas showed that gene played an important role in the onset of stroke. Recognizing and cloning the predisposing genes of stroke will clarify its genetic essence radically and have great effect on the clinical differentiating of stroke types and their prognosis judgement, individual treatment, early finding out of predisposing patients and prevention. Apolipoprotein B (apo B) is very important in the process of lip's transporting and metabolizing and associates nearly with atherosclerosis, cardiovascular and cerebrovascular diseases. In this study we observed the relationship between gene mutation of apo B and stroke to compare the difference of gene types among different colonies and their susceptibility to stroke, and to explore the possible etiology of stroke in themolecular level to provide theoretic proof of prevention and treatment of CVD.Methods: Collecting the CVD patients who were in the Department of Neurology, Xiangya Hospital, Central South University from Jan. 1999 to Oct. 2002 and part of their family members. All cases were diagnosed by CT and/or MRI and all fulfilled the diagnose criterion of the forth national annual meeting of cerebrovascular disease. Objects examined were divided into five groups: the control group, the sporadic cerebral infarction group (SCI), the sporadic cerebral hemorrhage group (SCH), the group of cerebral infarction cases with family history (CIFH) and the group of cerebral hemorrhage cases with family history (CHFH). The cases of the control group were eliminated CVD by clinical examination, CT and/or MRI, and were made sure without family history of CVD. The differences of age, sex, blood pressure among all groups were not significant. The gene mutationsof C7673T and G11039A, the 26th exon of apo B and the 29th exon G12669A were analyzed by PCR-RFLP; the VNTR polymorphism of apo B gene was analyzed by PCR and polyacrylamide gel electrophoresis; TG, CHO, HDL and LDL were examined by oxidase method; the serum level of LP(a) was determined by ELISA and apoB-100 and apo A- I were examined by immune method.Results: 1. Mutation freauencies of the 26th exon of anoB C7673T inthe CIFH and CHFH groups were all higher than that in the control group, and its mutation frequencies in the CIFH group were significantly higher than those in the SCI group. And in the CIFH and CHFH groups, the mutation frequencies of C7673T of the patients and their first-degree relatives were higher than those of their second and third-degree relatives; but there was no significant difference between the mutation frequencies of the patients and those of their first-degree relatives. Mutation frequencies of apoB C7673T in the cerebral infarction group(including CIFH and SCI groups) and the cerebral hemorrhage group(including CHFH and SCH groups) were all higher than that in the control group.2. Mutation frequencies of the 26th exon of apoB G11039T in the cerebral infarction group(including CIFH and SCI groups) were all higher than that in the control group, and there was an increasing tendency of its mutation frequencies in the groups with family history compared with those in the groups with sporadic patients. And in the groups with family history, the mutation frequencies of G11039T of the patients and their first-degree relatives were higher than those of their second and third-degree relatives. There was no significant difference between the mutation frequencies of the patients and those of their first-degree relatives in the CIFH group; and so did that between t...
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