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High Frequencies of a Rearrangement (+ATA; -T) at -530 to theβ-Globin Gene in Different Populations Indicate the Absence of a Correlation with a Silentβ-Thalassemia Determinant

 

作者: WongS. C.,   StomingT. A.,   EfremovG. D.,   HuismanT. H. J.,  

 

期刊: Hemoglobin  (Taylor Available online 1989)
卷期: Volume 13, issue 1  

页码: 1-5

 

ISSN:0363-0269

 

年代: 1989

 

DOI:10.3109/03630268908998048

 

出版商: Taylor&Francis

 

数据来源: Taylor

 

摘要:

DNA samples from numerous subjects of different racial and ethnic backgrounds, with or without various hemoglobinopathies (classicalβ-thalassemia; silentβ-thalassemia, Hb E, sickle cell anemia), were studied for a rearrangement (+ATA; -T) at nucleotide-530 in the 5’flanking region of theβ-globin gene using amplified DNA and32P-labeled synthetic oligonucleotide probes. The data show that this unusual sequence is a common feature among East-Asians and Blacks (particularly SS patients), and is not associated with mild thalassemic features typical for the silent form ofβ-thalassemia, as has been suggested (5).

 

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