Premium
FY*A silencing by the GATA‐motif variant FY*A(−69C) in a Caucasian family
Author(s) -
Písačka Martin,
Marinov Iuri,
Králová Miroslava,
Králová Jana,
Kořánová Michaela,
Bohoněk Miloš,
Sood Chhavi,
OchoaGaray Gorka
Publication year - 2015
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/trf.13221
Subject(s) - genotyping , genetics , allele , genotype , phenotype , biology , microbiology and biotechnology , genomic dna , dna , gene
BACKGROUND The c.1‐67C variant polymorphism in a GATA motif of the FY promoter is known to result in erythroid‐specific FY silencing, that is, in Fy(a−) and Fy(b−) phenotypes. A Caucasian donor presented with the very rare Fy(a−b−) phenotype and was further investigated. STUDY DESIGN AND METHODS Genomic DNA was analyzed by sequencing to identify the cause of the Fy(a−b−) phenotype. Samples were collected from some of his relatives to establish a correlation between the serology and genotyping results. Red blood cells were analyzed by gel column agglutination and flow cytometry. Genomic DNA was analyzed on genotyping microarrays, by DNA sequencing and by allele‐specific PCR. RESULTS In the donor, a single‐nucleotide polymorphism T>C within the GATA motif was found at Position c.1‐69 of the FY promoter and shown to occur in the FY*A allele. His genotype was found to be FY*A(−69C), FY*BW.01 . In six FY * A/FY * B heterozygous members of the family, a perfect correlation was found between the presence vs. absence of the FY * A (− 69C ) variant allele and a Fy(a−) vs. Fy(a+) phenotype. CONCLUSION The location of the c.1‐69C polymorphism in a GATA motif whose disruption is known to result in a Fy null phenotype, together with the perfect correlation between the presence of the FY*A(−69C) allele and the Fy(a−) phenotype support a cause–effect relationship between the two.