琥珀酸脱氢酶基因突变与颈动脉体瘤发病机制研究

SDH mutation and the pathogenesis of carotid body tumor

目的探讨SDH亚单位基因突变与颈动脉体瘤发生之间的关系。方法抽取包含两个高发家系在内的17个人血样，提取血液基因组DNA，分别对SDHB、SDHC、SDHD基因的外显子进行PCR扩增、比对，检测颈动脉体瘤患者中是否存在一致的基因突变类型，从而在分子水平研究其可能的发病机制。结果1个家系中的两名患者SDHD基因的第2个外显子存在一致的突变：91位碱基A突变为T（A91T），92位碱基C突变为G（C92G），导致31位密码子由丝氨酸密码子突变为终止子（S31X）。另一个家系及散发性患者没有发生有SDHB、SDHC、SDHD基因突变。结论国人的家族性颈动脉体瘤患者中存在SDHD基因的突变，且此突变可能是家族性颈动脉体瘤一个重要的致病原因；发现了SDHD基因的一个新的突变形式-S31X。

Objective To investigate the mutations in genes coding for the mitochondrial complex II succinate dehydrogenase （SDH） subunits and their relationgship with the pathogenesis of carotid body tumors. Methods Seventeen blood samples were taken out from two hereditary families for genome DNA. Different exons of the SDHB, SDHC and SDHD genes were amplified to investigate the relationship between these mutations and the pathogenesis of carotid body tumors. Results Mutaions existed in SDHD exon 2 of 2 patients in one family：In position 91, A mutated into T（ A91 T） and in position 92, C mutated into G （C92G） ,which induced the mutation of amino acids at position 31 into terminator （S31X）. No mu- tations were found in another family and sporadic patients. Conclusion SDHD mutation is present in Chinese and this mutation may be associated with the pathogenesis of familial carotid body tumors. A new type of the SDHD mutation-S31X was found.