本文選題：彌漫性掌跖角化病 + 突變檢測　； 參考：《鄭州大學(xué)》2010年碩士論文

【摘要】： 目的 1.確定一個(gè)彌漫性掌跖角化病家系的發(fā)病類型 2.發(fā)現(xiàn)該家系的致病基因,為該家系患者進(jìn)行產(chǎn)前診斷服務(wù)以及為該家系提供遺傳咨詢和優(yōu)生指導(dǎo)。 方法 對一名先征者的皮膚進(jìn)行組織病理學(xué)檢查確定發(fā)病類型,并用聚合酶鏈反應(yīng)技術(shù)聯(lián)合基因測序的方法對家系中的7位患者的角蛋白1(KRT1)基因的9個(gè)外顯子及角蛋白9的第一外顯子突變熱點(diǎn)區(qū)(KRT9-exon1)進(jìn)行突變檢測,以家系中的9例健康者及30位無血緣關(guān)系的的正常人做對照。 結(jié)果 發(fā)現(xiàn)先征者的表皮呈高度角化過度,顆粒層和棘層增厚,顆粒層及棘層未見裂隙及顆粒性空泡變性,未見表皮分解。確定該家系屬于彌漫性非表皮松解型掌跖角化病。測序結(jié)果比照發(fā)現(xiàn)家系中所有成員及30位無血緣關(guān)系的對照者在KRT1的外顯子及KRT9的第一外顯子突變熱點(diǎn)區(qū)的基因組序列一致。 結(jié)論 1.該家系的疾病類型是彌漫性非表皮松解型掌跖角化病。 2.KRT1及KRT9第一外顯子區(qū)(KRT9-exon1)不是該家系發(fā)病的分子遺傳學(xué)基因。 3.目前還不能對該家系患者進(jìn)行產(chǎn)前診斷和相應(yīng)的優(yōu)生指導(dǎo)和遺傳咨詢服務(wù)。
[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.
【學(xué)位授予單位】：鄭州大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2010
【分類號】：R758.5

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