PMID- 10612839
OWN - NLM
STAT- MEDLINE
DCOM- 20000120
LR  - 20061115
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 15
IP  - 1
DP  - 2000 Jan
TI  - Mutations of the factor VIII gene in thai hemophilia A patients.
PG  - 117-8
AB  - Hemophilia A is a common X-linked bleeding disorder caused by mutations in the
      coagulation factor VIII gene. The entire coding and essential sequences of the
      factor VIII gene were generated by a combination of genomic DNA amplification and
      long reverse transcription-polymerase chain reaction (long RT-PCR) using factor
      VIII transcripts prepared from lymphocytes. Mutations were then screened by
      non-radioactive single strand conformation polymorphism (SSCP) analysis and
      characterized by DNA sequencing. We have identified six potentially pathogenic
      mutations in the factor VIII gene in Thai hemophilia A patients, including two
      nonsense mutations (R-5X and R1966X), three missense mutations (D542Y, G1850V,
      and G2325C), and a 4-bp insertion (ACTA) at codon 2245. Three of these mutations 
      (D542Y, G2325C, and 4-bp insertion) have never been previously reported, and the 
      ins2245 is the first example of such insertion probably causing factor VIII
      elongation. R1966X, D542Y, G1850V, and 4-bp insertion were associated with a
      severe hemophiliac phenotype whereas R-5X and G2325C were observed in moderately 
      affected patients. Mutations in the factor VIII gene in Thai hemophilia A
      patients are likely to be heterogeneous. This study represents the first attempt 
      to further the understanding of the molecular basis of hemophilia A in Thai.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Akkarapatumwong, V
AU  - Akkarapatumwong V
AD  - Institute of Molecular Biology and Genetics, Mahidol University, Salaya Campus,
      Nakhon Pathom.
FAU - Oranwiroon, S
AU  - Oranwiroon S
FAU - Pung-amritt, P
AU  - Pung-amritt P
FAU - Treesucon, A
AU  - Treesucon A
FAU - Thanootarakul, P
AU  - Thanootarakul P
FAU - Veerakul, G
AU  - Veerakul G
FAU - Mahasandana, C
AU  - Mahasandana C
FAU - Panyim, S
AU  - Panyim S
FAU - Yenchitsomanus, P
AU  - Yenchitsomanus P
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 9001-24-5 (Factor V)
RN  - 9001-27-8 (Factor VIII)
RN  - EC 1.16.3.1 (Ceruloplasmin)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Cattle
MH  - Ceruloplasmin/genetics
MH  - Factor V/genetics
MH  - Factor VIII/*genetics
MH  - Female
MH  - Hemophilia A/*genetics
MH  - Humans
MH  - Male
MH  - Mice
MH  - Molecular Sequence Data
MH  - Mutation
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - Rats
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Sequence Alignment
MH  - Swine
MH  - Thailand
EDAT- 1999/12/29 00:00
MHDA- 1999/12/29 00:01
CRDT- 1999/12/29 00:00
PHST- 1999/12/29 00:00 [pubmed]
PHST- 1999/12/29 00:01 [medline]
PHST- 1999/12/29 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(200001)15:1<117::AID-HUMU27>3.0.CO;2-E [pii]
AID - 10.1002/(SICI)1098-1004(200001)15:1<117::AID-HUMU27>3.0.CO;2-E [doi]
PST - ppublish
SO  - Hum Mutat. 2000 Jan;15(1):117-8. doi:
      10.1002/(SICI)1098-1004(200001)15:1<117::AID-HUMU27>3.0.CO;2-E.