Fig. 2.
Fig. 2. FAS mutation analysis. / (A) Image of the DGGE analysis, including a control sample, total tissue section of the ALPS patient, micromanipulated T-cell blasts (approximately 100 cells, nested PCR) and L&H cells (10 cells, nested PCR). (B) Sequence of the aberrant homoduplex band obtained after direct sequencing. (C) Confirmation of the mutation using aBstB1 restriction enzyme digest.BstB1 cuts the normal PCR product of 257 base pairs (bp) at nucleotide 130-136 resulting in 2 fragments of approximately 130 bp. Only part of the PCR product of the ALPS patient is digested with the BstB1 restriction enzyme indicating that theBstB1 restriction site is disrupted in one allele of the FAS gene of the ALPS patient. (D)BstB1 restriction site in the wild-type sequence and the disrupted BstB1 restriction site in the mutated sequence.

FAS mutation analysis.

(A) Image of the DGGE analysis, including a control sample, total tissue section of the ALPS patient, micromanipulated T-cell blasts (approximately 100 cells, nested PCR) and L&H cells (10 cells, nested PCR). (B) Sequence of the aberrant homoduplex band obtained after direct sequencing. (C) Confirmation of the mutation using aBstB1 restriction enzyme digest.BstB1 cuts the normal PCR product of 257 base pairs (bp) at nucleotide 130-136 resulting in 2 fragments of approximately 130 bp. Only part of the PCR product of the ALPS patient is digested with the BstB1 restriction enzyme indicating that theBstB1 restriction site is disrupted in one allele of the FAS gene of the ALPS patient. (D)BstB1 restriction site in the wild-type sequence and the disrupted BstB1 restriction site in the mutated sequence.

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