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约旦新生儿的胎儿血红蛋白和γ珠蛋白基因三倍体研究。

Studies on fetal hemoglobin and gamma globin gene triplication in newborns in Jordan.

作者信息

Sadiq M F

机构信息

Department of Biological Sciences, Yarmouk University, Irbid, Jordan.

出版信息

Proc Natl Sci Counc Repub China B. 1998 Jul;22(3):108-13.

PMID:9779599
Abstract

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.

摘要

胎儿血红蛋白(Hb F)定量及其γ链组成定量对于鉴别不同的血红蛋白病很重要。这是首次针对约旦新生儿进行的研究,旨在检测血液学数据和γ珠蛋白链变异体。总共对52名随机选取的健康约旦新生儿进行了检查。使用XmnI消化法将Gγ和Aγ链定量与基因图谱分析相结合,用于在所研究样本中鉴定出1例Gγ三联体病例。对该病例的家系研究表明,携带此Gγ三联体一个拷贝(13Kb XmnI片段)的成年人HbF水平正常(<1%),Gγ水平较高(>80%),未检测到纯合子。其余51名新生儿的Gγ和Aγ链频率值正常。52个样本中AγT链的频率为0.22。除1例HbS外,未检测到异常的α或β链变异体。

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