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AvaIPolymorphism in the Human Transferrin Gene

 

作者: S. Tsuchida,   S. Ikemoto,   E. Kajii,  

 

期刊: Human Heredity  （Karger Available online 1997）
卷期: Volume 47, issue 6  

页码: 338-341

 

ISSN:0001-5652

 

年代: 1997

 

DOI:10.1159/000154432

 

出版商: S. Karger AG

 

关键词: Transferrin;Restriction fragment length polymorphism;Intragenic recombination

 

数据来源: Karger

 

摘要:

A guanine-adenine substitution was observed in exon 5 of the human transferrin (TF) gene. The nucleotide change led to an AvaI digestion site. Analysis of the segregation of the AvaI polymorphism and serum TF phenotypes indicated that an intragenic recombination occurred between the AvaI polymorphic site and the mutation site in the TF gene which determines the two common TF alleles, TF*C1 and TF*C2.

 

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