Figure 3

Semiquantitative real-time PCR results. Bars represents 2^−ΔΔCt value calculated by ΔCt method. Data are normalized to a control DNA. Control samples were divided in male and female controls (CN-M and CN-F); each bar of male or female control is the result obtained by 3 different control patients. Male and female controls present the correct number of copies of HPRT in the region analyzed; on the other hand, LNS-positive controls (CP) present no copies of HPRT. (A) Real-time semiquantitative PCR results of HPRT exon 2 analysis. II.3 is the male proband, carrier of the deletion between exons 1 and 3; II.2 and I.3 are the proband’s sister and mother, both carriers of the deletion; I.4 is the proband’s father, showing a pattern similar to that of normal controls. On the mother’s side, the female cousin, the aunt, and the aunt’s husband (ll.1, l.2, and l.1, respectively) show a pattern typical of nonaffected individuals. (B) Real-time semiquantitative PCR results of HPRT exon 9 analysis. II.3 and II.4 are the 2 affected brothers; II.2 is their sister, who presents a pattern similar to that of normal controls. I.3 is the probands’ mother, who is a carrier of the deletion. The probands’ relatives (the female cousin, the maternal aunt, and uncle by marriage, ll.1, l.2, and l.1, respectively) show a normal pattern.