一例重型斑驳病患者的KIT基因突变检测

发布时间：2019-04-24 01:45

【摘要】：【目的】对1例斑驳病小家系中的先证者进行致病基因KIT和SLUG(SNAI2)编码序列的突变检测,寻找致病性突变。【方法】应用PCR扩增KIT和SLUG基因编码区及外显子-内含子交界区,对PCR产物进行直接测序。在50例正常对照中进行新突变的测序分析,以排除多态性。【结果】家系先证者SLUG基因检测未发现异常,KIT基因检测到1个国际数据库中尚未报道的点突变c.860TA(p.V287E),患者父母均未检测到此突变。该突变位于KIT基因编码蛋白的细胞外配体结合区域,第287位的缬氨酸突变为谷氨酸,可能导致了与249位谷氨酸相排斥,破坏了D3结构域中βD和βD/βE稳定性,最终影响SCF(stem cell factor)的结合功能。【结论】KIT基因的新生突变可能是引起本重型斑驳病患者发病的原因。
[Abstract]:[objective] to detect the mutation of the KIT and SLUG (SNAI2) coding sequence of the pathogenic gene in a small family with mottle disease. [methods] KIT and SLUG gene coding region and exon-intron junction region were amplified by PCR, and the intron-intron junction region of KIT and SLUG gene was amplified by PCR. The PCR products were sequenced directly. The new mutations were sequenced in 50 normal controls to exclude polymorphism. [results] No abnormality was found in SLUG gene detection in proband, and point mutation c.860TA (p.V287E), which had not been reported in an international database, was detected by KIT gene. The mutation was not detected by the patient's parents. The mutation is located in the extracellular ligand-binding region of the protein encoded by the KIT gene, and the mutation of valine at position 287 is glutamic acid, which may lead to the rejection of glutamate at position 249 and destroy the stability of 尾 D and 尾 D / 尾 E in D3 domain. [conclusion] Neonatal mutation of KIT gene may be the cause of the pathogenesis of this severe mottled disease. [conclusion] the new mutation of KIT gene may be the cause of the development of SCF (stem cell factor) binding function.
【作者单位】：广东省医学科学院//广东省人民医院皮肤科;上海市皮肤病医院;
【基金】：广东省自然科学基金(S2013010015872)
【分类号】：R758.5

【相似文献】