Research Article

Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study

Figure 1

Semiquantitative PCR in positioning analysis of the novel large deletion. Figure 1① was a representative electrophoresis of the semiquantitative PCR products. Compared with the mother (M1), the patient (P1) and the father (F1) had less signal intensity of the PCR products when using primer Set 1, while this is not the case when using primer Set 2; note that the signal intensity of the PCR products in the patient (P2) and the father (F2) was similar to that in the mother (M2). Figure 1② depicted the positions of the primer Sets 1 and 2. The primer sequences in Set 1 were 5′-GAGCTTCTTAGAAACCACCATGTGG-3′ (IVS5S5) and 5′-TCCAATGAGG AAGAAGACTACAGGAAG-3′ (IVS5A6), while in Set 2, 5′-TTTATGCACTGGGGCAACATG-3′ (IVS 1NF) and 5′-TGCCGGGCTGACACTTTGG-3′ (IVS 2NB), respectively. The results suggested that the patient (P) and the father (F) might harbor an obscure large deletion around the primer Set 1 but not Set 2.