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Thromb Haemost 1990; 64(02): 302-306
DOI: 10.1055/s-0038-1647306
Original Article
Schattauer GmbH Stuttgart

Point Mutations in Four Hemophilia B Patients from China

N S Wang
*   The Visiting Scholar from Children’s Hospital, Chongqing University of Medical Sciences, Chongqing, Sichuan, China
,
S H Chen
Departments of Pediatrics and Medicine, University of Washington, U.S.A
,
A R Thompson
**   The Puget Sound Blood Center, Seattle, Washington, U.S.A
› Author Affiliations
Further Information

Publication History

Received 07 February 1990

Accepted after revision07 May 1990

Publication Date:
25 July 2018 (online)

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Summary

Point mutations in factor IX genes of four unrelated Chinese patients with hemophilia B have been identified by direct sequencing of amplified genomic DNA fragments. These four mutations occur in exon 8 of the factor IX gene. A C to T transition at nucleotide 30,863 changes codon 248 from Arg (CGA) to a new Stop codon (TGA), described in a previous family as factor IXMalmo3 (Green P M et al., EMBO J 1989; 8: 1067). A G to A transition, at nucleotide 31,051 changes codon 310 from Trp (TGG) to a nonsense or Stop codon (TGA; factor IXchongqing2)- A G to A transition at nucleotide 31,119 changes codon 333 which is for Arg (CGA) in normal factor IX, to one for Gin (CAA) in the variant previously described as factor IXLondon2 (Tsang T C et al., EMBO J 1988; 7: 3009) in a patient with moderately severe hemophilia B. The fourth patient has a novel C to A transversion at nucleotide 31,290, which corresponds to replacement of codon 390 which is for Ala (GCA) in normal factor IX, to one for Glu (GAA) in a patient with moderately severe hemophilia B (factor IXChongqing3)- DNA sequences of amplified fragments from mothers of three showed both their son’s variant and a normal nucleotide at the appropriate position, indicating that they are carriers. The fourth patient’s (factor IXMalmo3) mother, whose DNA was not evaluable, was most probably a carrier because of her low plasma factor IX levels.

 

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