Fig. 4

MLPA results for the index patient (A) and a relative (B). The SERPINA1 exon numbering used in this P459-A2 SERPINA1 product is the exon numbering from the RefSeq transcript NM_001127701.1 (transcript variant 5), so that non-coding exon (Ia, Ib and Ic) are numbering as 1, 2 and 3, respectively, and exon II, III, IV and V are indicated as 4, 5, 6 and 7, respectively. Calculated probe ratios normalized to the reference samples are indicated on the y-axis. Arranging probes by chromosomal location reveals the homozygous deletion (probe ratio 0) in the patient’s sample (A) and heterozygous deletion (probe ratio around 0.5) in the relative’s sample (B)