弥漫性掌跖角化病一家系的KRT1和KRT9-exonl的基因检测与分析

发布时间：2018-05-14 09:54

本文选题：弥漫性掌跖角化病 + 突变检测　；参考：《郑州大学》2010年硕士论文

【摘要】： 目的 1.确定一个弥漫性掌跖角化病家系的发病类型 2.发现该家系的致病基因,为该家系患者进行产前诊断服务以及为该家系提供遗传咨询和优生指导。方法对一名先征者的皮肤进行组织病理学检查确定发病类型,并用聚合酶链反应技术联合基因测序的方法对家系中的7位患者的角蛋白1(KRT1)基因的9个外显子及角蛋白9的第一外显子突变热点区(KRT9-exon1)进行突变检测,以家系中的9例健康者及30位无血缘关系的的正常人做对照。结果发现先征者的表皮呈高度角化过度,颗粒层和棘层增厚,颗粒层及棘层未见裂隙及颗粒性空泡变性,未见表皮分解。确定该家系属于弥漫性非表皮松解型掌跖角化病。测序结果比照发现家系中所有成员及30位无血缘关系的对照者在KRT1的外显子及KRT9的第一外显子突变热点区的基因组序列一致。结论 1.该家系的疾病类型是弥漫性非表皮松解型掌跖角化病。 2.KRT1及KRT9第一外显子区(KRT9-exon1)不是该家系发病的分子遗传学基因。 3.目前还不能对该家系患者进行产前诊断和相应的优生指导和遗传咨询服务。
[Abstract]:Purpose 1. Identification of the type of disease in a family of diffuse palmoplantar keratosis 2. The pathogenicity gene of the family was found, and the prenatal diagnosis service and genetic counseling and eugenic guidance were provided for the family patients. Method Histopathological examination was performed on the skin of a preexisting patient to determine the type of disease. Polymerase chain reaction (PCR) combined with gene sequencing was used to detect 9 exons of keratin 1 gene and KRT9-exon 1 region of keratin 9 gene in 7 families. Nine healthy subjects and 30 unrelated healthy controls were used as controls. Result It was found that the epidermis was hyperkeratosis, the granular layer and spinous layer thickened, the granular layer and spinous layer had no degeneration of fissure and granular Xing Kong bubble, and the epidermis was not decomposed. The family was identified as diffuse non-epidermolysis palmoplantar keratosis. The sequencing results showed that all members of the family and 30 unrelated controls had the same genomic sequence in the exon of KRT1 and the hot spot region of mutation in the first exon of KRT9. Conclusion 1. The disease type of this family is diffuse non-epidermolysis palmoplantar keratosis. 2.KRT1 and KRT9 exon 1) are not molecular genetic genes of the family. 3. Prenatal diagnosis, eugenic guidance and genetic counseling are not available for the family.
【学位授予单位】：郑州大学
【学位级别】：硕士
【学位授予年份】：2010
【分类号】：R758.5

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