约旦新生儿胎儿血红蛋白和γ -珠蛋白基因三倍的研究。

M F Sadiq
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引用次数: 0

摘要

胎儿血红蛋白(Hb F)及其γ链组成的定量测定对不同血红蛋白病的鉴别具有重要意义。这是首次对约旦新生儿进行血液学数据和γ -珠蛋白链变异测试的研究。对随机选择的52名健康的约旦新生儿进行了检查。G γ和A γ链的定量结合XmnI酶切的基因定位,在研究样品中鉴定了1例G γ三重复制。对该病例的一项家族研究表明,携带一个G γ三倍拷贝(13Kb XmnI片段)的成年人HbF水平正常(< 1%),G γ水平高(> 80%),而未检测到纯合子。其余51例新生儿G γ和A γ链频率值正常。A γ T链在52个样本中的频率为0.22。除一例HbS外,未检测到异常的α或β链变异。
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Studies on fetal hemoglobin and gamma globin gene triplication in newborns in Jordan.

Quantitation of fetal hemoglobin (Hb F) and quantitation of it's gamma chain composition is important for the identification of different hemoglobinopathies. This is the first study done on the Jordanian newborns to test the hematological data and the gamma globin chain variants. A total of 52 randomly selected healthy Jordanian newborns were examined. The quantitation of the G gamma and A gamma chains combined with gene mapping using XmnI digestion, were used in the identification of one case of G gamma triplication among the studied samples. A family study of this case showed that adults carrying one copy of this G gamma triplication (13Kb XmnI fragment) had normal levels of HbF (< 1%) and high levels of G gamma (> 80%) while no homozygotes were detected. The remaining 51 newborns had normal frequency values of G gamma and A gamma chains. The frequency of the A gamma T chain among the 52 samples was 0.22. No abnormal alpha or beta chain variants were detected except for one case of HbS.

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