本文選題：ABO血型系統(tǒng) + 亞型��； 參考：《上海交通大學(xué)》2015年碩士論文

【摘要】：ABO血型系統(tǒng)是臨床輸血醫(yī)學(xué)和移植醫(yī)學(xué)中最重要的血型系統(tǒng),ABO血型的各種亞型造成臨床血型鑒定困難,某些情況下可能使患者無法及時(shí)接受輸血治療或器官移植,延誤治療時(shí)機(jī),甚至嚴(yán)重威脅患者生命。丙酮酸激酶缺乏癥是一種常見的紅細(xì)胞酶缺陷性疾病,主要引起慢性非球形紅細(xì)胞溶血性貧血,為常染色體隱性遺傳。PCR測序采用傳統(tǒng)的Sanger測序法,其本身所具有的準(zhǔn)確性高、易于標(biāo)準(zhǔn)化操作等優(yōu)點(diǎn)使其被廣泛的應(yīng)用于臨床檢驗(yàn)診斷,大大提高了診斷的特異性和靈敏度。本研究主要是通過PCR測序技術(shù)對臨床工作中遇到的ABO血型系統(tǒng)亞型及單基因遺傳病給予基因診斷。通過收集先證者臨床信息,對先證者臨床表型進(jìn)行分析,收集患者外周血進(jìn)行DNA的提取,設(shè)計(jì)引物進(jìn)行PCR擴(kuò)增、測序,進(jìn)而利用生物信息學(xué)軟件對先證者基因型進(jìn)行分析,實(shí)現(xiàn)PCR技術(shù)在臨床檢驗(yàn)診斷中的應(yīng)用。在對一例B(A)亞型的研究中,發(fā)現(xiàn)該患者ABO基因存在多個(gè)變異,其第6外顯子區(qū)存在261del和c.297AG二處雜合變異,第7外顯子區(qū)存在c.526CG、c.640AG、c.646TA、c.657CT、c.681GA、c.703GA、c.771CT、c.796CT、c.803GC、c.829GA、c.930GA十一處雜合變異,以A101等位基因?yàn)闃?biāo)準(zhǔn)序列進(jìn)行比較,對照Blood Group Antigen Gene Mutation Database進(jìn)行ABO等位基因突變分析,判斷患者血型為B(A)04/O06血型。在對一例丙酮酸激酶缺乏癥的研究中,發(fā)現(xiàn)先證者PKLR基因的7號(hào)外顯子和9號(hào)外顯子分別存在c.941TC和c.1183GC的復(fù)合雜合突變,先證者父親和姐姐均為c.1183GC雜合突變,先證者母親為c.941TC雜合突變,蛋白分析預(yù)測軟件表明兩個(gè)突變均引起蛋白結(jié)構(gòu)的改變及酶活力的降低。
[Abstract]:The ABO blood group system is the most important blood group system in clinical transfusion medicine and transplantation medicine. It is difficult for clinical blood group identification because of various subtypes of ABO blood group. In some cases, patients may not be able to receive blood transfusion therapy or organ transplantation in time. Delay in treatment, and even a serious threat to patients' lives. Pyruvate kinase deficiency is a common disease of erythrocyte enzyme deficiency, which mainly causes chronic non-spherical erythrocyte hemolytic anemia. It is widely used in clinical laboratory diagnosis because of its advantages such as easy to standardize operation, which greatly improves the specificity and sensitivity of diagnosis. In this study, genetic diagnosis of ABO blood group system subtype and single gene hereditary disease was carried out by PCR sequencing technique. By collecting the clinical information of proband, analyzing the clinical phenotype of proband, extracting DNA from peripheral blood of patients, designing primers for PCR amplification, sequencing, and then using bioinformatics software to analyze the genotype of proband. To realize the application of PCR technology in clinical laboratory diagnosis. In the study of a ABO subtype, it was found that there were several mutations in the ABO gene of this patient. The heterozygotes of 261del and c.297AG were found in exon 6, and the heterozygosity in exon 7 was c. 526 CGCnc. 640AGC646 TAAc. 657 CTA c. 681GAc. 773GAc 771CTC. 796CTU. 803GCU. 829GAC930GA. 930GA 11 heterozygotes were found in exon 6. The A101 allele was used as the standard sequence and the ABO allele mutation analysis was performed in the control Blood Group Antigen Gene Mutation Database. The patient's blood group was identified as B(A)04/O06 blood group. In a case of pyruvate kinase deficiency, it was found that exon 7 and exon 9 of the PKLR gene of the proband had complex heterozygous mutations of c.941TC and c.1183GC, respectively. The father and sister of the proband were both c.1183GC heterozygosity mutations. The mother of the proband was a c.941TC heterozygosity mutation. The software of protein analysis and prediction showed that both mutations caused the change of protein structure and the decrease of enzyme activity.
【學(xué)位授予單位】：上海交通大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2015
【分類號(hào)】：R457.11;R440

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