Southern blot analysis of the 5′ endpoint genomic deletion. (Top) Southern blot analysis of genomic DNA from control (C) and proposita (I.2), using EX2 cDNA probe (see also Fig 1). Notice the reduced signal intensity (underlined sizes bands) consistently found in the patient with EX2 probe. Restriction enzymes used are indicated. Band sizes (in kilobases) are given. (Bottom) Hybridization of the sameXba I/Bgl II membrane with pLym3′ probe that covers the nondeleted region of 4.1 Annecy gene.