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 gtcTcct at 17 bp from potential -TIS and 39 bp from -TLIS; intron 1 is located between TIS and TLIS. The 3'-unt region: 761 bp, the canonical plyadenilation signal at position 716-721 bp."

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

鸯铗痂蝈 蜞赕:

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