Fig. 3.
Fig. 3. Detection of 598C>T and 388G>C VHLmutations. / (A) 598C>T mutation analysis. Fnu4HI digests 266-bp PCR product of the wild-type VHL allele into 188- and 78-bp bands; the 598C>T mutation abolishes the restriction site resulting in the uncut 266-bp band. M indicates 123-bp DNA ladder; Pt6, patient 6; Ht: a heterozygote for the 598C>T mutation; N, healthy control; 8M, mother of patient 8; 8F, father of patient 8; Pt8, patient 8; −, no template. Our results indicate that patient 6 is homozygous and patient 8 and his mother are heterozygous for the 598C>T mutation. (B) 388G>C mutation analysis. HpaI digests PCR product of the 296-bp wild-type VHL allele into 180- and 116-bp bands; the 388G>C mutation abolishes the restriction site resulting in the uncut 296-bp band. M indicates 123-bp DNA ladder; N, healthy control; 8M, mother of patient 8; 8F, father of patient 8; Pt8, patient 8; −, no template. Our results indicate that patient 8 and his father are heterozygous for the 388G>C mutation.

Detection of 598C>T and 388G>C VHLmutations.

(A) 598C>T mutation analysis. Fnu4HI digests 266-bp PCR product of the wild-type VHL allele into 188- and 78-bp bands; the 598C>T mutation abolishes the restriction site resulting in the uncut 266-bp band. M indicates 123-bp DNA ladder; Pt6, patient 6; Ht: a heterozygote for the 598C>T mutation; N, healthy control; 8M, mother of patient 8; 8F, father of patient 8; Pt8, patient 8; −, no template. Our results indicate that patient 6 is homozygous and patient 8 and his mother are heterozygous for the 598C>T mutation. (B) 388G>C mutation analysis. HpaI digests PCR product of the 296-bp wild-type VHL allele into 180- and 116-bp bands; the 388G>C mutation abolishes the restriction site resulting in the uncut 296-bp band. M indicates 123-bp DNA ladder; N, healthy control; 8M, mother of patient 8; 8F, father of patient 8; Pt8, patient 8; −, no template. Our results indicate that patient 8 and his father are heterozygous for the 388G>C mutation.

Close Modal
This Feature Is Available To Subscribers Only

or Create an Account

Close Modal
Close Modal