Figure 2.
Figure 2. Detection of the C598T mutation in DNA samples from 2 heterozygotes and 12 homozygotes. (A) Examples of sequences of the relevant region of the VHL gene in a control subject, in a heterozygote (P24), and in a homozygote (P04) patient. (B) FnU4HI digested the 268-bp PCR product of the wild-type VHL allele into 187- and 81-bp bands. Conversely, the C598T mutation resulted in an uncut 268-bp band. Patients P24 and P25 were heterozygotes for the mutation, whereas the other patients are homozygotes. MW indicates molecular weight standards; Heter, heterozygotes.

Detection of theC598Tmutation in DNA samples from 2 heterozygotes and 12 homozygotes. (A) Examples of sequences of the relevant region of the VHL gene in a control subject, in a heterozygote (P24), and in a homozygote (P04) patient. (B) FnU4HI digested the 268-bp PCR product of the wild-type VHL allele into 187- and 81-bp bands. Conversely, the C598T mutation resulted in an uncut 268-bp band. Patients P24 and P25 were heterozygotes for the mutation, whereas the other patients are homozygotes. MW indicates molecular weight standards; Heter, heterozygotes.

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