Figure 4

Mutations in family member by restriction fragment length polymorphism analysis using a 294-base pair fragment, amplified by polymerase chain reaction (PCR). The figure shows the digest result of blood and urine samples of patient 1 and 2, their mother and the negative control. After digestion of the target gene, two fragments (182 bp and 112 bp) were generated, using a blood and a urine samples from three members of the family (3, 9, 15 were blood samples and 4,10,16 were urine samples of patient 1; 1, 7, 13 were blood samples and 2, 8, 14 were urine samples of patient 2; 5, 11, 17 were blood samples and 6, 12,18 were urine samples of mother; 19,20 were controls). The figure confirms the A3243G mutation point in amplified products of these samples. The gene in the mother’s blood sample was almost not digested (with a mutation frequency of only 3.8%). The gene in the negative control (i.e. that does not contain this mutation) was not digested.