一例重型斑驳病患者的KIT基因突变检测

【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.860T>A（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...

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Published inZhongshan da xue xue bao. Zhongshan daxue xuebao yixue kexue ban = Journal of Sun Yat-sen University. Yi xue ke xue ban Vol. 38
Main Authors 邓伟平, 陈敏华, 戴少霞
Format Journal Article
LanguageChinese
Published Editorial Office of Journal of Sun Yat-sen University 01.01.2017
Subjects
de novo突变
KIT基因
SLUG基因
斑驳病
Online AccessGet full text
ISSN1672-3554

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Abstract 【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.860T>A（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。
AbstractList 【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.860T>A（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。
Author 戴少霞
陈敏华
邓伟平
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Snippet 【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...
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SubjectTerms de novo突变
KIT基因
SLUG基因
斑驳病
Title 一例重型斑驳病患者的KIT基因突变检测
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