结节性硬化症1例基因突变分析
发布时间：2018-10-26 07:43
【摘要】：目的研究结节性硬化症1个散发病例TSC1和TSC2基因突变情况。方法采用直接测序法对1个散发病例患者及其家庭成员进行TSC1和TSC2基因突变检测,并进行DNA测序分析。结果测序结果显示该散发病例的TSC1基因第11外显子第1119位与1120位碱基之间插入了一个碱基A,为c.1119-1120ins A(p.S374KfsX2)移码突变。结论TSC1基因第11外显子存在c.1119-1120ins A(p.S374KfsX2)移码突变可能是导致散发病例结节性硬化症患者发病的原因。
[Abstract]:Objective to study the mutation of TSC1 and TSC2 genes in a sporadic case of nodular sclerosis. Methods TSC1 and TSC2 gene mutations were detected by direct sequencing in a sporadic patient and their family members, and DNA sequencing was performed. Results the sequencing results showed that a base A was inserted between exon 1119 and 1120 of the TSC1 gene in this sporadic case, which was a c.1119-1120ins A (p.S374KfsX2) frameshift mutation. Conclusion the presence of c.1119-1120ins A (p.S374KfsX2) frameshift mutation in exon 11 of TSC1 gene may be the cause of sporadic nodular sclerosis.
【作者单位】： 川北医学院附属医院皮肤科;
【基金】：四川省教育厅自然科学基金(09ZC047)
【分类号】：R596.1
[Abstract]:Objective to study the mutation of TSC1 and TSC2 genes in a sporadic case of nodular sclerosis. Methods TSC1 and TSC2 gene mutations were detected by direct sequencing in a sporadic patient and their family members, and DNA sequencing was performed. Results the sequencing results showed that a base A was inserted between exon 1119 and 1120 of the TSC1 gene in this sporadic case, which was a c.1119-1120ins A (p.S374KfsX2) frameshift mutation. Conclusion the presence of c.1119-1120ins A (p.S374KfsX2) frameshift mutation in exon 11 of TSC1 gene may be the cause of sporadic nodular sclerosis.
【作者单位】： 川北医学院附属医院皮肤科;
【基金】：四川省教育厅自然科学基金(09ZC047)
【分类号】：R596.1
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1 陈星;刘林莉;杨浩;杜姿岑;牟韵竹;张正中;;结节性硬化症1例基因突变分析[J];中国皮肤性病学杂志;2017年05期
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