American Society of Hematology

Fig. 3.

$Fig. 3. Detection of the mutation by restriction endonuclease digestion of PCR-amplified DNA. The pedigree is shown at the top of the figure. Genomic DNA samples obtained from each family member were amplified using primer pair C and F as shown in Fig 1. The amplification products were digested with Rsa I and fractionated by electrophoresis in a 5% agarose gel. Digestion of the amplification products of the normal allele with Rsa I yields fragments of 84 and 64 bp, whereas the mutant allele yields fragments of 77 bp and 64 bp. None of the unaffected individuals (open symbols) have a 77-bp fragment. All affected individuals in the family (solid symbols) are heterozygous for the mutation.$

Detection of the mutation by restriction endonuclease digestion of PCR-amplified DNA. The pedigree is shown at the top of the figure. Genomic DNA samples obtained from each family member were amplified using primer pair C and F as shown in Fig 1. The amplification products were digested with Rsa I and fractionated by electrophoresis in a 5% agarose gel. Digestion of the amplification products of the normal allele with Rsa I yields fragments of 84 and 64 bp, whereas the mutant allele yields fragments of 77 bp and 64 bp. None of the unaffected individuals (open symbols) have a 77-bp fragment. All affected individuals in the family (solid symbols) are heterozygous for the mutation.

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