“…Among the described mutations and polymorphisms (5,6 ), c.103delG accounts for 37% of mutant alleles, allowing diagnosis of PH2 to be made by genetic testing (5 ). One of the polymorphisms, c.579GϾA, occurs in exon 6, and the G allele has been shown to have a frequency of 0.68 in genomic DNA from PH2 patients (5 ).…”