本文關(guān)鍵詞： EPAS基因 單核苷酸多態(tài)性 血液學(xué)指標(biāo) 高原低氧適應(yīng)　出處：《中國(guó)輸血雜志》2017年08期 　論文類型：期刊論文

【摘要】：目的探討EPAS1基因突變位點(diǎn)在世居高原和世居平原人群中的差異,并進(jìn)一步分析其與世居平原人群進(jìn)入高原后低氧適應(yīng)的相關(guān)性。方法選擇西藏藏族50名和平原漢族100名作為研究對(duì)象,提取DNA,應(yīng)用聚合酶鏈?zhǔn)椒磻?yīng)(PCR)技術(shù)結(jié)合測(cè)序進(jìn)行EPAS1基因2個(gè)單核苷酸多態(tài)位點(diǎn)(SNPs)rs13419896,rs1868092檢測(cè)。選擇50名漢族進(jìn)入高原前后血紅蛋白(Hb)差值≥35 g/L、紅細(xì)胞計(jì)數(shù)(RBC)差值≥1×1012/L和紅細(xì)胞比容(Hct)差值≥0.1共20名作為觀察組,其余30名作為對(duì)照組,分析2組之間攜帶不同單體型者血液學(xué)指標(biāo)變化。結(jié)果rs13419896位點(diǎn)A等位基因頻率在藏族和漢族中分別為88.0%和27.0%,rs1868092位點(diǎn)A等位基因頻率在藏族和漢族中分別為80.0%和10.0%,兩組比較均具有統(tǒng)計(jì)學(xué)差異(P0.000)。SHEsis構(gòu)建單體型結(jié)果發(fā)現(xiàn),觀察組中rs13419896和rs1868092單體型(A-A)顯著低于對(duì)照組(P0.05,OR=0.032,95%CI=0.003-0.382)。結(jié)論 EPAS1基因rs13419896(GA)和rs1868092(GA)位點(diǎn)突變與西藏藏族適應(yīng)高原低氧環(huán)境存在相關(guān)性。漢族人群進(jìn)入高原后,攜帶EPAS1單體型rs13419896和rs1868092(A-A)既能更好地適應(yīng)高原低氧環(huán)境,又可以降低自身血液黏滯度,利于高原低氧習(xí)服。
[Abstract]:Objective to investigate the difference of EPAS1 gene mutation locus in the population of native plateau and native plain. Furthermore, the correlation between hypoxia adaptation and hypoxia adaptation was analyzed. Methods DNA was extracted from 50 Tibetan people in Tibet and 100 Han nationality in plain area. Polymerase chain reaction (PCR) technique combined with sequencing was used to detect two single nucleotide polymorphic loci (SNPs) rs13419896 of EPAS1 gene. Rs1868092 test. The difference of HB between 50 Han patients before and after entering the plateau was more than 35g / L. The difference of RBC 鈮，

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