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Human fibrinogen polymorphic site analysis by restriction endonuclease
digestion and allele-specific polymerase chain reaction amplification:
identification of polymorphisms at positions A alpha 312 and B beta 448
RE Baumann and AH Henschen
Department of Molecular Biology and Biochemistry, University of California,
Irvine 92717-3900.
In the fibrinogen molecule, a total of seven sites have been tentatively
identified as polymorphic; however, disagreements about these sites have
been observed among the various protein and DNA sequence data published. To
allow examination of the potential polymorphic sites at the DNA level,
human genomic DNA samples were prepared from 110 unrelated, healthy
individuals. Either allele- specific polymerase chain reaction (ASPCR)
amplification or PCR amplification followed by restriction endonuclease
digestion was used to detect the presence of possible polymorphisms. Two
polymorphic sites were confirmed, one at A alpha 312 (Thr/Ala) by RsaI
restriction analysis, and a second at B beta 448 (Arg/Lys) by MnlI
restriction analysis. Mendelian inheritance of both polymorphisms was
demonstrated and allele frequencies were estimated as 0.76/0.24 and
0.85/0.15 for the A alpha 312 and B beta 448 sites, respectively. The sites
at A alpha 47, A alpha 296, B beta 162, B beta 296, and gamma 88 showed no
evidence of variation in any of our samples. The amino acid polymorphisms
at A alpha 312 and B beta 448 reflect conservative residue changes with
unknown effects on fibrinogen structure or function. An additional,
previously unrecognized DNA sequence variant was detected in a single
individual in the second intron of the A alpha chain using HinfI
restriction analysis.
Volume 82,
Issue 7,
pp. 2117-2124,
10/01/1993
Copyright © 1993 by The American Society of Hematology
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