本文選題：反向痤瘡　切入點(diǎn)：系譜　出處：《華中科技大學(xué)》2012年碩士論文　論文類型：學(xué)位論文

【摘要】：目的：研究一個(gè)反向痤瘡家系的臨床特征及其致病基因的突變類型。 方法：依據(jù)門診確診的先證者而追溯到一個(gè)反向痤瘡三代家系，然后對(duì)該家系進(jìn)行現(xiàn)場(chǎng)調(diào)查，并分析其遺傳模式。采集每位家系成員外周血標(biāo)本，提取全基因組DNA。運(yùn)用聚合酶鏈?zhǔn)椒磻?yīng)(PCR)擴(kuò)增早老素1(PSEN1)、單過性跨膜蛋白(NCSTN)和早老素增強(qiáng)子2(PSENEN)的所有外顯子，經(jīng)測(cè)序與比對(duì)后鑒定致病基因突變位點(diǎn)和突變方式。 結(jié)果：該家系共有3代14人，其中6人患�。�4例，女2例）。對(duì)4位現(xiàn)存患者的臨床特征進(jìn)行比較分析表明患者臨床表型差異顯著。該家系符合常染色體顯性遺傳模式。對(duì)3個(gè)上述基因的DNA測(cè)序分析發(fā)現(xiàn)NCSTN基因第6號(hào)外顯子存在c.647AC(p.216QP)錯(cuò)義突變，，且在該家系中基因型與表型呈完全共分離現(xiàn)象。同時(shí)檢測(cè)100名正常對(duì)照者而未發(fā)現(xiàn)該突變。查詢美國(guó)國(guó)家生物技術(shù)信息中心（NCBI）網(wǎng)站單核苷酸多態(tài)性(SNP)數(shù)據(jù)庫(kù)亦未發(fā)現(xiàn)該突變。 結(jié)論：該家系存在一個(gè)新的錯(cuò)義突變，即NCSTN基因第6號(hào)外顯子c.647AC。這可能是該家系患者發(fā)病的分子基礎(chǔ)。
[Abstract]:Objective: to study the clinical characteristics of a family with reverse acne and the mutation type of its pathogenic gene. Methods: according to the proband diagnosed in outpatient clinic, we traced back to a family of three generations of reverse acne, then investigated the family on the spot and analyzed its genetic pattern. The peripheral blood samples of each family member were collected. The whole genome DNAs were extracted and amplified by polymerase chain reaction (PCR). All exons of the exons of presenin 1 PSEN1, single transmembrane protein (NCSTN) and early age enhancer 2PSENEN) were amplified. The mutation sites and mutation patterns of the pathogenicity gene were identified by sequencing and comparison. Results: in this family, there were 14 persons in 3 generations, 6 of whom were ill (4 males, 4 males). A comparative analysis of the clinical characteristics of 4 extant patients showed that the clinical phenotypic differences were significant. The pedigree was in accordance with the autosomal dominant genetic pattern. The NCSTN gene was found by DNA sequencing analysis of the three genes mentioned above. Exon 6 had a missense mutation of c. 647 ACP p. 216QP, Genotypes and phenotypes were completely cosegregated in the pedigree, and the mutation was not found in 100 normal controls. The single nucleotide polymorphisms (SNPs) database of the National Center for Biotechnology Information (NCBI) website was also not found. Conclusion: there is a new missense mutation in this pedigree, I. e., exon 6 of NCSTN gene c. 647AC. this may be the molecular basis of the disease in this pedigree.
【學(xué)位授予單位】：華中科技大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2012
【分類號(hào)】：R758.73

【參考文獻(xiàn)】

相關(guān)期刊論文 前1條

1 徐薇,趙俊英,趙繪,顧菲,黃笑鳴;毛囊閉鎖性三聯(lián)征一例及家系分析[J];中華皮膚科雜志;2005年03期

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