科研之友
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摘要
We have identified four Chinese individuals from three unrelated families with raised Hb A(2) levels. The anti-Lepore hybrid hemoglobin (Hb) variant was amplified using a pair of primers, 5' to the beta-globin gene Cap site and 3' to the delta-globin gene polyadenylation site (polyA) region, respectively. Direct sequencing of the beta delta fusion products confirmed the anti-Lepore Hong Kong (NG_000007.3: g.63154_70565dup) variant. We found that this anti-Lepore variant is positioned in zone 3 on the capillary electrophoresis system. It may help in differential diagnosis of Hb variants and providing better information in clinical counseling.
- 出版日期2014
- 单位广州市妇女儿童医疗中心
