【摘要】：目的分析泉州地區(qū)α和β地中海貧血的基因突變類型及頻率,為泉州地區(qū)的地中海貧血篩查及診斷提供參考數(shù)據(jù)。方法用反向點(diǎn)雜交(RDB)-聚合酶鏈反應(yīng)(PCR)診斷α和β地中海貧血基因點(diǎn)突變,用跨越斷裂點(diǎn)(Gap)-PCR檢測α地中海貧血基因缺失,對于懷疑有罕見地中海貧血突變基因的樣本進(jìn)行測序確認(rèn)。結(jié)果 1 121例樣本中檢出195例β地中海貧血,陽性率為17.40%,IVS-2-654(C→T)雜合和CD41-42(-TCTT)雜合最常見,占β全部基因突變的67.18%(131/195);325例為α地中海貧血,陽性率為28.99%,最常見的是--SEA/αα,占α全部基因突變的77.23%(251/325)。同時,發(fā)現(xiàn)1例罕見的--Thai/αα、1例α-anti4.2、1例Hb G-Chinese復(fù)合Hb Westmead突變。結(jié)論泉州地區(qū)具有較高的地中海貧血基因攜帶率,而且基因突變類型較為復(fù)雜,廣泛地開展地中海貧血的篩查及產(chǎn)前診斷具有重要意義。
[Abstract]:Objective to analyze the type and frequency of gene mutation of 偽 and 尾 thalassemia in Quanzhou area, and to provide reference data for screening and diagnosis of thalassemia in Quanzhou area. Methods the point mutations of 偽 and 尾 thalassemia genes were diagnosed by reverse dot hybridization (RDB) polymerase chain reaction (PCR), and 偽 -thalassemia gene deletion was detected by crossing the break point (Gap) PCR. Samples suspected of having a rare thalassemia mutation were sequenced. Results among 1 121 samples, 195 尾 thalassemia cases were detected. The positive rate was 17.40IVS-2-654 (C-T) heterozygosity and CD41-42 (- TCTT) heterozygosity, accounting for 67.18% (131 / 195) of all 尾 gene mutations. The positive rate of 偽 -thalassemia was 28.99%. The most common one was SEA/ 偽, which accounted for 77.23% (251,325) of all 偽 gene mutations. At the same time, a rare case of Thai/ 偽 and a case of 偽 anti4.2,1 with Hb G-Chinese complex Hb Westmead mutation were found. Conclusion Quanzhou has a high gene carrying rate of thalassemia, and the type of gene mutation is more complex, so it is important to develop screening and prenatal diagnosis of thalassemia extensively.
【作者單位】： 泉州市婦幼保健院·兒童醫(yī)院產(chǎn)前診斷中心;
【分類號】：R556.61;R440

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