The Nondeletional Types of HB H Disease in Guangxi
作者:
J.X,
LiangS.,
JinQ.,
X.W,
期刊:
Hemoglobin
(Taylor Available online 1992)
卷期:
Volume 16,
issue 1-2
页码: 45-50
ISSN:0363-0269
年代: 1992
DOI:10.3109/03630269209005675
出版商: Taylor&Francis
数据来源: Taylor
摘要:
Three primers were designed, one specific forα1-globin DNA, a second forα2-globin DNA, and a third that is common for bothα1- andα2-globin DNA. These three primers can be applied for selective amplification of the two globin DNA fragments, which is useful for identification of nondeletional types of Hb H disease. Fifty-nine DNA samples of Hb H patients from Guangxi were studied by selective amplification, and 27 cases (45.8%) were confirmed as nondeletional types. Of these, 22 (81.5%) had the Hb Constant Spring (CS) mutation and one had the Hb Quong Sze (QS) mutation; both were identified by hybridization with synthesized oligonucleotide probes. Nondeletional Hb H disease in Guangxi seems to be more severe than the deletional types. The average hemoglobin level of the nondeletional Hb H/CS (-/αα) is 6.8 g/d1, which is lower than that of the deletional types (7.9 g/d1), while the levels of Hb H and Hb Bart's were much higher in the patients with Hb H/CS than in those with the deletional types.
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