SNP analysis by dCAPS method.

<p>Analysis of restriction fragments for SNP (A) rs695871 and (B) rs695872. For SNP rs695871 (C or G, AvaII digestion) analysis of a Q32/Q22 patient, the amplified products were Q32:359bp and Q22:329bp. If Q32 is linked to a C, AvaII will digest the product into two fragments of 313 bp and 46 bp. If Q32 is linked to a G, AvaII will not cut. If Q22 is linked to a C, AvaII will digest it into fragments of 46 bp and 283 bp. If Q22 is linked to a G, AvaII will not cut. In the case of C/G heterozygotes, some uncut hybrid product remained. For SNP rs695872 (C or T, NotI digestion) analysis of a Q32/Q22 patient, the amplified products were Q32:308bp and Q22:278bp. If Q32 is linked to a C, NotI will digest the product into two fragments of 254 bp and 64 bp. If Q32 is linked to a T, NotI will not cut. If Q22 is linked to a C, NotI will digest it into fragments of 64 bp and 214 bp. If Q22 is linked to a T, NotI will not cut. In the case of C/T heterozygotes, some uncut hybrid product remained. In the gels, the low molecular weight bands (46, 64 bp) are largely undetectable; the pattern is scored by whether the higher bands are cut or not.