Gene: [06p/RHAG] Rhesus blood group-associated glycoprotein, 50kD; Rh deficiency syndrome (RH-null hemolytic anemia; MIM:268150); [RH50A ]
COM | By isotopic in situ hybridization Cherif-Zahar-1996 mapped the RHAG gene to 6p21.1-11 (most probably to 6p12)." |
SUM | [1] The homozygous
state of the minor mutant allele of RHN regulatory gene determines
phenotype 'Rh-null' (or Rhesus-negative status). The main clinical features
of this phenotype are neonatal anemia (hemolytic anemia with decreased life
span of red blood cells, increased fragility of red blood cells, and
occurence of fetal hemoglobin). This variant of Rh deficiency syndrome or
Rh deficiency hemolytic anemia is denoted 'Rh-mod' (Rh-modified phenotype)
and depends exclusively on RHN gene. [2] Another genetic variant of 'Rh-null' with similar clinical manifestation of anemia is determined by the homozygosity for another rare mutation (so called N.Morton allelomorph) in a locus that is closely linked with the Rhesus complex in chromosome 1p (see a comment in GEM:01p3/RHCE). Thus, the Rh deficiency syndrome is heterogeneous. [3] Homozygotes with the Rh deficiency anemia (one or another of the two Rh-null variants) occurred very rarely - about 1 per 6 millions, usually in the offspring of consanguinity matings (that is typical for the autosomal recessive inheritance)." |
REF | LOC,PAT,MUT "Cherif-Zahar B &: Nature Genet, 12,
168-173, 1996 PHE,PAT,FOG "Chown &: AJHG, 24, 623-637, 1974 LOC,MAP "Miller YE &: AJHG, 41, 1061-1070, 1987 PHE,PAT,FOG "Nash, Shojania: Am J Hematol, 24, 267-275, 1987 CLO,SEQ,LOC "Ridgwell K &: Biochem J, 287, 223-228, 1992 PHE,PAT,FOG "Schmidt, Vos: Vox Sang, 13, 18-20, 1967 PHE,PAT,FOG "Sistonen &: Vox Sang, 48, 174-177, 1985 PHE,PAT,FOG "Vos &: Lancet, 1, 14-15, 1961 |
SWI | SWISSPROT: Q02094 |
KEY | mem |
CLA | coding, basic |
LOC | 06 p21.1-11 |
MIM | MIM: 180297 |
SYN | RH50A |
