Gene: [03p213/GPX1] glutathione peroxidase 1 (cellular); hemolytic anemia (glutathione peroxidase 1 deficiency);


FUN

Systematic name: glutathione:hydrogen peroxide oxidoreductase. The reaction catalyzed: 2 glutathione + H(2)O(2) = oxidized glutathione + 2 H(2)O."

PAT

Hemolytic disease of newborns with pronounced hyperbilirubinemia and red blood cell fragments (Heinz's bodies) in peripheral blood was described. It is thought to be related to a partial deficiency of erythrocyte glutathione peroxidase 1. Usually the anemia is compensated by the age of 3 months, although the enzyme deficiency remains. In the families of probands, some their sibs exhibit a similar clinical pattern. The parents are mostly healthy, although sometimes both may have decreased glutathione peroxidase activity; one of the parents may have a history of neonatal icterus."

POP

An allele determining decreased glutathione peroxidase 1 level is found at frequency of 0.18 in populations of USA and North Europe, and at frequency of 0.56 among Ashkenazi Jews. A minor allele GPX1/2 is found at frequency of 0.054 in some ethnic groups in Africa. It determines an increased level of glutathione peroxidase 1 in 2-1 heterozygotes as compared to normal 1-1 homozygotes. The spreading of this allele in malaria endemic regions is supposed to be accounted for by a selective advantage of heterozygotes."

HET

Phenocopies of the transitory glutathione peroxidase 1 deficiency exist. These are caused by the disturbances in the selenium metabolism (e.g., during pregnancy), since selenium is involved in the catalytic center of the enzyme, as Se-Cys, influencing not only the enzymatic activity, but also (according to Takahashi-1986) the enzyme synthesis in red blood cells."

POL

[1] Gene-specific DNA probe phGPX-20/2A1 (a 557 bp fragment) has been cloned at EcoRI site in the plasmid pBR322. RFLP system:
[1] HaeIII A-RFLP (Murray-1987; Probe [1]): allele A1= 650 bp/(popul freq= 0.25); allele A2= 600/(0.75); Constant Band = 550 bp"

HIS

This marker was indicated in the MIM-88 catalogue as GPX1 deficiency, under the number 23170 in the group of autosomal recessive phenotypes. This number was excluded from the MIM-90 catalogue, and the description of the marker was included in the group of codominant markers (MIM:138320)."

REL

GEM:14q241/GPX2; GEM:05q3/GPX3; GEM:19^/GPX4; GEM:00.0/GPX5; GEM:00.0/GPX6; GEM:00.0/GPX7."

PSG

GEM:0X^/GPXP1, GEM:21^/GPXP2.

REF

FOG,POP "Beutler E, West: AJHG, 26, 255-258, 1974a
FOG,POP "Beutler E &: Ann Hum Genet, 38, 163-169, 1974b
FOG,POP "Board PG: AJHG, 35, 914-918, 1983
PAT,PHE "Boivin &: Enzym Biol Clin, 10, 68-80, 1969
COD,EXP "Chada &: Blood, 74, N7, 2535-2541, 1989
PAT,MOP "Cohen &: Am J Clin Nutr, 41, 735-747, 1985
COD,SEQ "Dunn DK &: Biochem Soc Trans, 17, 1128-1129, 1989
LOC,FAG "Fidzianska E: Genet Polon, 25, N4, 451-457, 1984
FOG,POP "Golan &: Hum Hered, 30, 136-141, 1980
CLO,SEQ "Ishida K &: NAR, 15, 10051, 1987
LOC,CYG "Johannsmann R &: Hum Genet, 56, 361-363, 1981
LOC "Kiss C &: CCG, 79, N3-4, 228-230, 1997
LOC,MOL "Le Beau &: CCG, 51, (HGM10), 1030, 1989
LOC,FAG,EAG "McBride OW &: BioFactors, 1, 285-292, 1988
FOG,POP "Meera Khan &: AJHG, 38, 712-723, 1986
FOG,POP "Meera Khan &: Hum Genet, 66, 352-355, 1984
CLO,SEQ "Mullenbach GT &: Protein Engin, 2, 239-?, 1988
CLO,SEQ "Mullenbach GT &: NAR, 15, N13, 5484, 1987
PAT,PHE "Necheles TF &: Blood, 33, 164-169, 1969
PAT,PHE "Nishimura &: Tohoku J Exp Med, 108, 207-218, 1972
PAT,MOP "Perona &: Brit J Haematol, 42, 567-574, 1979
CLO,SEQ "Sukenaga Y &: NAR, 15, 7178, 1987
PAT,MOP "Takahashi &: J Clin Invest, 77, 1402-1404, 1986
LOC,CYG "Wijnen LM &: CCG, 22, (HGM4), 232-238, 1978

KEY

hem, aac, xen

CLA

coding, basic

LOC

03 p21.3

MIM

MIM: 138320

EZN

ENZYME: 1.11.1.9

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