CANDIDATE GENE ACTING AS A SUPPRESSOR OF THE RH LOCUS IN MOST CASES OF RH-DEFICIENCY

Citation
B. Cherifzahar et al., CANDIDATE GENE ACTING AS A SUPPRESSOR OF THE RH LOCUS IN MOST CASES OF RH-DEFICIENCY, Nature genetics, 12(2), 1996, pp. 168-173
Citations number
32
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
10614036
Volume
12
Issue
2
Year of publication
1996
Pages
168 - 173
Database
ISI
SICI code
1061-4036(1996)12:2<168:CGAAAS>2.0.ZU;2-4
Abstract
The Rh antigen is a multi-subunit complex composed of Rh polypeptides and associated glycoproteins (Rh50, CD47, LW and glycophorin B); these interact in the red cell membrane and are lacking or severely reduced in Rh-null, cells. As a result, individuals with Rh-null suffer chron ic haemolytic anaemia known as the Rh-deficiency syndrome. Most freque ntly, Rh-null phenotypes are caused by homozygosity of an autosomal su ppressor gene unlinked to the RH locus (Rh-null regulator or Rh-mod ty pes), We have analysed the genes and transcripts encoding Rh, CD47 and Rh50 proteins in five such unrelated Rh-null, cases. In all patients, we identified alteration of Rh50 - frameshift, nucleotide mutations, or failure of amplification - which correlated with Rh-null phenotype, We propose that mutant alleles of Rh50, which map to chromosome 6p11- 21.1, are likely candidates for suppressors of the RH locus accounting for most cases of Rh-deficiency.