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目的研究中国汉族人群 Fabry 病的致病基因突变位点,分析基因型与临床表现型的关系。方法临床诊断的 Fabry 病先证者两例,分别收集各先证者及其家系成员的 DNA 样本。聚合酶链式反应扩增 DNA 样本的7个外显子及其相邻序列,对扩增产物进行测序分析。对基因改变阳性者,分析其临床表现与基因改变的关系。结果在两个先证者的5′非蛋白质编码区分别发现G1168A、G1170A 突变,而正常对照在该位点未发现异常。在一先证者的家族成员中,发现了3个致病突变携带者。而在另一先证者的家系成员中,未发现致病突变携带者,故该先证者为一散发病例。女性杂合子有一定程度的酶活性残留,其临床症状轻于男性患者。结论 GLA 基因的5′非蛋白质编码区参与了该病的发生。性别在一定程度上决定了该病的临床表现。
Objective To study the mutation sites of Fabry disease in Chinese Han population and analyze the relationship between genotypes and clinical phenotypes. Methods The clinical diagnosis of Fabry disease probands in two cases, were collected from each proband and their family members of the DNA samples. Polymerase chain reaction amplification of DNA samples of seven exons and their adjacent sequences, amplification products were sequenced. The positive gene mutation, analysis of its clinical manifestations and genetic changes. Results The G1168A and G1170A mutations were found in the 5 ’non-protein coding regions of the two probands, respectively, but no abnormality was found in the normal control. Among the family members of a proband, three carriers of disease-causing mutations were found. In another proband’s family members, no mutation carriers were found, so the proband was a case of sporadic cases. Female heterozygotes have a certain degree of residual enzyme activity, and their clinical symptoms are lighter than those of male patients. Conclusion The 5 ’non-protein coding region of GLA gene is involved in the pathogenesis of this disease. Sex to a certain extent determines the clinical manifestations of the disease.