A novel two bases deletion in the albumin gene causes analbuminaemia in a young turkish man.

We report the identification of the mutation that causes analbuminaemia in a 26 year-old Turkish man, born in Amasya from a first cousin marriage. He noted swelling of the legs and eye-lids at the age of 19 years, and was evaluated in various hospitals because of his low ALB levels, but without a clear diagnosis.Genomic DNA was extracted from whole blood of the proband, his parents and two controls. PCR amplification of the 14 coding exons of the albumin gene and their intron–exon junctions was performed as described. Heteroduplex analysis showed that the only detectable change in the proband and his parents with respect to the two controls occurred in the 356-bp-long region amplified using PCR primers A05A and A06A, which encompassed exon 3 and the intron 2–exon 3 and exon 3–intron 3 junctions. This fragment was amplified and submitted to automated direct sequencing. The results showed that the proband is homozygous for a TG deletion at nucleotide positions c.229_230, according to the HGVS rules, i.e. starting from the initiator codon.