PMID- 12147176
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20030930
LR  - 20191106
IS  - 1471-2350 (Print)
IS  - 1471-2350 (Electronic)
IS  - 1471-2350 (Linking)
VI  - 3
DP  - 2002 Jul 29
TI  - SNP analysis of the inter-alpha-trypsin inhibitor family heavy chain-related 
      protein (IHRP) gene by a fluorescence-adapted SSCP method.
PG  - 6
AB  - BACKGROUND: Single-nucleotide polymorphisms (SNPs) are considered to be useful 
      polymorphic markers for genetic studies of polygenic traits. Single-stranded 
      conformational polymorphism (SSCP) analysis has been widely applied to detect 
      SNPs, including point mutations in cancer and congenital diseases. In this study, 
      we describe an application of the fluorescent labeling of PCR fragments using a 
      fluorescent-adapted primer for SSCP analysis as a novel method. METHODS: 
      Single-nucleotide polymorphisms (SNPs) of the inter-alpha-trypsin inhibitor 
      family heavy chain-related protein (IHRP) gene were analyzed using a 
      fluorescence-adapted SSCP method. The method was constructed from two procedures: 
      1) a fluorescent labeling reaction of PCR fragments using fluorescence-adapted 
      primers in a single tube, and 2) electrophoresis on a non-denaturing 
      polyacrylamide gel. RESULTS: This method was more economical and convenient than 
      the single-stranded conformational polymorphism (SSCP) methods previously 
      reported in the detection of the labeled fragments obtained. In this study, eight 
      SNPs of the IHRP gene were detected by the fluorescence-adapted SSCP. One of the 
      SNPs was a new SNP resulting in an amino acid substitution, while the other SNPs 
      have already been reported in the public databases. Six SNPs of the IHRP were 
      associated with two haplotypes. CONCLUSIONS: The fluorescence-adapted SSCP was 
      useful for detecting and genotyping SNPs.
FAU - Tozaki, Teruaki
AU  - Tozaki T
AD  - Department of Physiological Chemistry, School of Pharmaceutical Sciences, Showa 
      University, 1-5-8 Hatanodai, Shinagawa, Tokyo 142-8555, Japan. 
      ttozaki@nyc.odn.ne.jp
FAU - Choi-Miura, Nam-Ho
AU  - Choi-Miura NH
FAU - Taniyama, Matsuo
AU  - Taniyama M
FAU - Kurosawa, Masahiko
AU  - Kurosawa M
FAU - Tomita, Motowo
AU  - Tomita M
LA  - eng
PT  - Journal Article
DEP - 20020729
PL  - England
TA  - BMC Med Genet
JT  - BMC medical genetics
JID - 100968552
PMC - PMC117798
EDAT- 2002/07/31 10:00
MHDA- 2002/07/31 10:01
PMCR- 2002/07/29
CRDT- 2002/07/31 10:00
PHST- 2002/05/20 00:00 [received]
PHST- 2002/07/29 00:00 [accepted]
PHST- 2002/07/31 10:00 [pubmed]
PHST- 2002/07/31 10:01 [medline]
PHST- 2002/07/31 10:00 [entrez]
PHST- 2002/07/29 00:00 [pmc-release]
AID - 1471-2350-3-6 [pii]
AID - 10.1186/1471-2350-3-6 [doi]
PST - ppublish
SO  - BMC Med Genet. 2002 Jul 29;3:6. doi: 10.1186/1471-2350-3-6. Epub 2002 Jul 29.