先天性厚甲症2型一家系的基因突变研究

发布时间：2018-08-03 10:41

【摘要】：目的研究先天性厚甲症的基因突变,从而探讨基因型与表现型之间的关系。方法提取1个先天性厚甲症家系中先证者及其家人的外周血基因组DNA,用聚合酶链反应扩增,产物测序检测。取先证者母亲的皮损做组织病理检查,观察皮损组织的角蛋白17的表达。结果家系中两患者的角蛋白17的1号外显子第275位碱基发生A→G的杂合突变,其突变导致其编码角蛋白17的第92位氨基酸的密码子发生改变,使其编码的氨基酸由天冬酰胺变为丝氨酸(N92S)。先证者母亲皮损组织病理检查为多发性脂囊瘤,免疫组化显示角蛋白17阳性表达。结论验证了角蛋白17的1号外显子α螺旋1A区突变在先天性厚甲症发病机制中的重要作用。角蛋白17 1A区突变对脂囊瘤的早发可能存在一定影响,基因型与表型存在一定关联。
[Abstract]:Objective to investigate the relationship between genotypes and phenotypes in congenital hyperthyroidism. Methods the peripheral blood genomic DNA of the proband and his family were extracted from a family with congenital hyperthyroidism and amplified by polymerase chain reaction (PCR), and the products were sequenced. The expression of keratin 17 was observed by histopathological examination of the mother's skin lesions of the proband. Results A G heterozygous mutation occurred in exon 1 of keratin 17 in two families, which led to the change of the 92nd amino acid codon of keratin 17. The amino acid encoded by it was changed from asparagine to serine (N92S). The pathological examination of the mother's skin lesion showed polylipidoma and keratin 17 positive expression by immunohistochemistry. Conclusion the mutation of 伪 helix 1A in exon 1 of keratin 17 may play an important role in the pathogenesis of congenital hyperthyroidism. The mutation of keratin 171A region may have a certain effect on the early onset of adipocystoma, and the genotype is related to phenotype.
【作者单位】：西安交通大学第二附属医院皮肤科;河北省保定市第一医院皮肤科;西安市儿童医院皮肤科;
【基金】：国家自然科学基金资助项目(No.30600764) 西安交通大学第二附属医院院基金[YJ(ZD)201307]~~
【分类号】：R758.72

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