Gene: [17p1/PLI] alpha-2-plasmin inhibitor (alpha-2 antiplasmin); plasmin inhibitor deficiency (Miyasato disease; antiplasmin deficiency); [AAP ]
HIS | The radioautographic data (Kato-1988) suggest that the gene PLI is most probably located in 18q (c-q11.2). However, when Welch and Francke (Welch-1992) used the same probe in their efforts to construct a complete physical map of chromosome 18, they discovered that PLI could be excluded from that chromosome. On the basis of the published PLI sequence, they designed primers to sequences in introns 6 and 7 that directed amplification of a 353-bp fragment that included the entire exon 7. By polymerase chain reaction (PCR) analysis of rodent-human hybrid panels, they unequivocally assigned PLI to human chromosome 17. With a regional mapping panel, the assignment was narrowed to 17pter-p12. Markie-1992 also excluded the PLI gene from chromosome 18." |
GEN | [1] The gene length is
17.5 kb. Exons: 10 (17, 67, 39, 63, 202, 144, 204, 143, 205, and 1169 bp);
introns: 9 (7.04, 0.105, 0.120, 0.222, 2.48, 0.146, 1.18, 3.11, and 1.18
kb); however, lengths of introns 1, 5, and 7-9 are determined approximately
(Hirosawa-1988; Corrections for this paper - see Reference - reported also
the corrected nucleotide sequence of the 5'-ntc region of this gene). Three
Alu-repeats are found at the 3'-end of intron 8, within a 1.23-kb XhoI-DraI
fragment. They possibly generate a relatively rare RFLP type with a lengthy
deletion (Miura-1989). [2] The 5'-ntc region: Within the range of 350 bp, there are four GC-rich sequences and the canonical promoter gtcT |
FAG | The product of this gene belongs to the superfamily of serpins (SERine Protease INhibitors). On other genes from this group, see GEM:07q22/PLGAI1." |
PRO | Probe pPI39 is a 750 bp EcoRI-HindIII cDNA fragment (Sumi-1986). |
POL | EcoRI/BamHI-RFLP (Miura-1989): the normal allele (A) is about 5.5 kb; the mutant allele (B) is about 4.78 kb, having a 720 bp deletion. The population frequency of the alleles are: among Caucasoids (European origin; N=66), p(A)=0.735 and p(B)=0.265; among Mongoloids (Japanese; N=50), p(A)=0.51 and p(B)=0.49; frequencies in both populations fit the Hardy-Weinberg equilibrium." |
REF | REV,FUN,MEB "Aoki N: J Prot Chem, 5, 269-277, 1986 GEN,SEQ,MOP "Hirosawa S &: PNAS, 86, (N5/Correction), 1612, 1989 GEN,SEQ,MOP "Hirosawa S &: PNAS, 85, N18, 6836-6840, 1988 COD,SEQ,MOP "Holmes WE &: JBC, 262, N4, 1659-1664, 1987 PRO,HIS "Kato A &: CCG, 47, 209-211, 1988 PAT,FOG,MUT "Kluft C &: J Clin Invest, 80, 1391-1400, 1987 PAT,FOG,MUT "Koie K &: Lancet, 2, 1334-1336, 1978 LOC "Markie D &: Genomics, 14, 431-436, 1992 POL,MOL,MUT "Miura O &: Biochemistry, 28, 4934-4938, 1989a MUT,MOL,PAT "Miura O &: J Clin Invest, 83, N5, 1598-1604, 1989b HIS,PEP,FUN "Moroi, Aoki N: JBC, 251, 5956-5965, 1976 EXP,ENG,MOP,FUN "Sumi Y &: J Biochem, 106, 703-707, 1989a CLO,SEQ,MOP "Sumi Y &: J Biochem, 100, 1399-1402, 1986b CLO,SEQ,MOP "Tone M &: J Biochem, 102, 1033-1041, 1987 LOC "Welch SK, Francke U: Genomics, 13, 213-214, 1992 |
SWI | SWISSPROT: P08697 |
KEY | hem, clot, serp |
CLA | coding, basic |
LOC | 17 pt-12 |
MIM | MIM: 262850 |
SYN | AAP |
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