International forum. an investigation of iron status in blood donors

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Mutational Analysis of the LHX1 Gene in a French National Cohort of Patients with Mayer-Rokitansky-Küster-Hauser Syndrome

International audienceObjective: Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome) is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal secondary sexual characteristics development and a normal 46, XX ..

Identification of a new HLA-DRB1 allele, DRB1*0321

International audienceThis communication reports the identification of a new HLA-DRB1*03 allele identified in three members of a Caucasian French family. This new allele has been officially named HLA-DRB1*0321 by the World Health Organization Nomenclature Committee. The complete exon 2 sequence of DRB1*0321 is identical to that of DRB1*0307 except for the first and second nucleotides of codon 37 (TT replacing AA), which lead to the substitution of a tyrosine for a phenylalanine (AAC»TTC at position 37). The family study showed that this new allele was transmitted into the HLA-A*0101/09,-B*0801/14,-Cw*0701,-DRB1*0321,-DRB3*0101,-DQB1*0503 and-DPB1*0401 haplotype. The complete exon 2 sequence of this new allele has been previously deposited in the EMBL Sequence Database under accession number AF297266