Fig. 2.
Fig. 2. Detection of the T1927C missense mutation in the family pedigree and mutant RNA. / (Top) Family pedigree: individuals heterozygous for the T1927C (FV Nijkerk) missense mutation are indicated by a half-closed symbol. (Middle) Exon 12 was amplified from genomic DNA and subjected toBsl I digestion as described. The mutation creates an additional restriction site and the resulting fragments are indicated by arrows. Each lane represents the DNA from the individuals located directly above in the family pedigree in the top panel. (Bottom) Total RNA was reverse transcribed and amplified as described. SubsequentBsl I digestion revealed the presence of both the wild-type allele as well as the mutant allele in the RNA of patient 5 (III-1) and his mother (II-3). Asterisk indicates propositus; M, marker; C, liver tissue32 RNA control; PCR, uncut RT-PCR product (247 bp).

Detection of the T1927C missense mutation in the family pedigree and mutant RNA.

(Top) Family pedigree: individuals heterozygous for the T1927C (FV Nijkerk) missense mutation are indicated by a half-closed symbol. (Middle) Exon 12 was amplified from genomic DNA and subjected toBsl I digestion as described. The mutation creates an additional restriction site and the resulting fragments are indicated by arrows. Each lane represents the DNA from the individuals located directly above in the family pedigree in the top panel. (Bottom) Total RNA was reverse transcribed and amplified as described. SubsequentBsl I digestion revealed the presence of both the wild-type allele as well as the mutant allele in the RNA of patient 5 (III-1) and his mother (II-3). Asterisk indicates propositus; M, marker; C, liver tissue32 RNA control; PCR, uncut RT-PCR product (247 bp).

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