Hemoglobin southampton (Casper): Characterization of the base mutation
作者:
Nicholas H. Heintz,
Phillip L. Howard,
期刊:
American Journal of Hematology
(WILEY Available online 1989)
卷期:
Volume 30,
issue 1
页码: 1-3
ISSN:0361-8609
年代: 1989
DOI:10.1002/ajh.2830300102
出版商: Wiley Subscription Services, Inc., A Wiley Company
关键词: hemoglobinopathy
数据来源: WILEY
摘要:
AbstractHemoglobin Casper is characterized by the substitution of cytidine for thymidine in condon 106 of the beta globin gene. This substitution results in the creation of a new restriction site for Msp I but not for the isoschizimer Hpa II. The restriction pattern following digestion with Msp I reveals a 9.9‐kb fragment not seen in normal individuals or following digestion of Casper DNA with Hpa II. This finding confirms the predicted base mutation and indicates that the cytidine in the newly acquired CpG site is methylate
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