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目的了解泉州市α和β地中海贫血的基因突变类型及分布情况。方法对2013年12月至2017年3月就诊于我院的适龄夫妇和临床送检的疑诊病例进行基因检测,分析α、β地中海贫血阳性病例的基因突变类型及频率。结果850例疑似病例中460例为地中海贫血,阳性率54.12%。其中257例为α地中海贫血(30.24%),198例为β地中海贫血(23.29%),另有5例为αβ复合型地中海贫血(0.59%)。α地中海贫血以--SEA/αα基因类型为主,β地中海贫血以IVS-Ⅱ-654/N、CD41-42/N和CD17/N最为常见,并检测出3例--THAI/αα和1例αα/αααanti3.7的罕见基因突变类型。结论泉州地区地中海贫血复杂多样性且具有显著的遗传异质性,丰富了本地区的流行病学资料。
Objective To understand the gene mutation and distribution of α and β thalassemia in Quanzhou. Methods Genotypes were detected in suspected couples and age-matched couples in our hospital who visited our hospital from December 2013 to March 2017. The types and frequencies of gene mutations in α, β-thalassemia-positive cases were analyzed. Results Among the 850 suspected cases, 460 were thalassemia, with a positive rate of 54.12%. Of these, 257 were α-thalassemia (30.24%), 198 were β-thalassemia (23.29%) and the other 5 were αβ-thalassemia (0.59%). α-thalassemia major --SEA / ααgene type, β thalassemia most frequently IVS-Ⅱ-654 / N, CD41-42 / N and CD17 / N, and detected in 3 cases - THAI / αα and 1 Cases of αα / αααanti3.7 rare gene mutation type. Conclusion The complexity and diversity of thalassemia in Quanzhou have significant genetic heterogeneity and enrich the epidemiological data in this area.