Figure 4

Frameshift deletions found in families PK039 (A-C) and PK069 (D-F). A, D. MRF-SSCP analyses of SI-4 and SI-7 fragments from the patients of families PK039 and PK069, respectively. The maps of restriction fragments obtained from digestions of PCR fragments by sets of endonucleases in two families are shown (upper). The MRF-SSCP analyses (lower) of the patients (P) from both families show mobility shifts of single-stranded DNAs (pointed) when compared with those of normal controls (N). These fragments are located in the dotted box of the upper map. B, E. Sequencing analyses of PKD1 -cDNA from the two patients. The sequencing profiles of both families show different types of two nucleotide deletions (c. 5225_5226delAG and c.9451_9452delAT), resulting in frameshift translation, as compared with the normal sequence. C, F. Direct detection of the two deletions (g.29124_29125delAG and g.39376_39377delAT) in members of the families PK039 and PK069, respectively. The di-nucleotide deletions in PKD1 genomic-DNA in members of both families were detected by restriction analyses. The two mutations abolish recognition sites of Eco0109 I and Afl III, respectively. The presence of larger fragment in each case indicates the existence of mutation.