本文選題：毛囊角化病 + DNA突變分析�。� 參考：《新疆醫(yī)科大學(xué)》2017年碩士論文

【摘要】：目的分析一個(gè)哈薩克族毛囊角化病四代49人大家系的臨床特點(diǎn)和遺傳學(xué)特征,檢測家系中患者ATP2A2基因的突變位點(diǎn),分析疾病臨床特點(diǎn)和遺傳學(xué)特征。方法(1)收集此毛囊角化病家系的臨床病例資料及家系圖譜;(2)提取家系中11例患者外周血樣的DNA,并提取家系中33例健康者和100例無親緣關(guān)系的正常人DNA作為對照;(3)針對ATP2A2基因的共21對外顯子及外顯子和內(nèi)含子交界處聚合酶鏈?zhǔn)椒磻?yīng)擴(kuò)增(PCR),最終采用直接測序法對毛囊角化病患者、家系內(nèi)非患者及正常對照個(gè)體的DNA進(jìn)行檢測,并進(jìn)行基因突變篩查。結(jié)果(1)該家系遺傳方式屬于常染色體顯性遺傳。(2)通過對ATP2A2基因突變檢測,發(fā)現(xiàn)該家系中11例患者ATP2A2基因的編碼序列顯示外顯子11的剪切位點(diǎn)發(fā)生雜合突變(1288-1G→A),即第1288-1位堿基由G轉(zhuǎn)化為A,而家系中33例正常人和家系外100例正常人檢測均未發(fā)現(xiàn)該突變,此突變未有文獻(xiàn)報(bào)道,為新發(fā)突變。結(jié)論該家系毛囊角化病發(fā)病可能是由ATP2A2基因12號(hào)外顯子的剪切位點(diǎn)發(fā)生雜合突變(1288-1G→A)所致,可能是導(dǎo)致該家系臨床病變的主要原因,其基因突變也可能與臨床嚴(yán)重程度有關(guān)。該研究進(jìn)一步豐富了角化性皮膚遺傳病基因型-表型的數(shù)據(jù)庫,為哈薩克族毛囊角化病的發(fā)病機(jī)制研究、產(chǎn)前遺傳咨詢、基因診斷及基因治療。
[Abstract]:Objective to analyze the clinical and genetic characteristics of a family of 49 Kazak people with hair follicular keratosis, to detect the mutation site of ATP2A2 gene, and to analyze the clinical and genetic characteristics of the disease. Methods 1) the clinical data and family map of this family with keratosis were collected. The peripheral blood samples of 11 patients were extracted from the family, and 33 healthy people and 100 unrelated normal persons were extracted from the family as control group. A total of 21 pairs of exons of ATP2A2 gene were amplified by polymerase chain reaction at the junction of exons and introns. The DNA of non-patient and normal individuals were detected and gene mutation was screened. Results 1) the genetic pattern of this family belongs to autosomal dominant inheritance. (2) the mutation of ATP2A2 gene was detected. It was found that the coding sequence of ATP2A2 gene in 11 patients in this pedigree showed a heterozygous mutation at the shear site of exon 11, that is, the 1288-1 base was transformed from G to A, while 33 healthy people and 100 healthy people outside the family were detected. None of the mutations were found, This mutation, which has not been reported in literature, is a new mutation. Conclusion the pathogenesis of hair follicular keratosis in this family may be caused by the heterozygous mutation (1288-1G) in the exon 12 of ATP2A2 gene, which may be the main cause of clinical lesions in this family, and the gene mutation may also be related to the severity of the disease. This study further enriches the genotypic phenotypic database of keratinizing skin hereditary disease, which is useful for the study of pathogenesis, prenatal genetic counseling, gene diagnosis and gene therapy of hair follicular keratosis in Kazak nationality.
【學(xué)位授予單位】：新疆醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2017
【分類號(hào)】：R758.5

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相關(guān)期刊論文 前2條

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本文編號(hào)：1789081