The purpose of our work was to define the HLA-DRB genotype of “Braids Lady” for researching the possible presence of some RA susceptibility gene.
We first performed molecular analysis on DNA obtained from deparaffinized tissue sections (by PCR-SSO) and then from the entire bone (by PCR-SSP).
HLA-DRB typing using PCR-SSO has shown the presence of DRB1*0101 and DRB1*1101 alleles (corresponding to DR1 and DR11 serotypes, respectively), together with positivity for DRB3 gene (phenotipically DR52). The assignment of allele DRB1*0101 has been confirmed by PCR-SSP (further details available from FP) (figure, c).
Natural mummy from the Basilica of S. Francesco in Arezzo (17th century). b:
Left hand with large erosions of the metacarpophalangeal joints and lateral deviation of the fingers. c:
HLA-DRB typing by PCR-SSP. The DNA, previously amplified using allele-specific primers, is run on 2% agarose gel stained with ethidium bromide and visualized on UV light. The bands (specific products), appearing in the gel at lanes 2 (200bp), 13 (270 bp) and 22 (240 bp), correspond to DRB1*0101, DRB1*11 and DRB3*01-03 alleles, respectively. The human growth hormone is added as internal control (1069 bp); the lane 1 is the negative control.
DRB1*0405 and *1001 are the most frequent in Asiatics with *1001 even in Spain; DRB1*0101, together with DRB1*0401,*0404-05 sharing epitope Q(K/R)RAA, is associated with RA in Mediterranean patients, including Italians;4
finally, DRB1*1402, 0802, 0811 and 0407, absent or poorly represented in the Italian population, have generally a significantly higher gene frequency among Native Americans than other DRB1 alleles (Navajo and Pimans of Gila River Indian Community of Arizona, Lakota Sioux, Seri tribe of Northwest Mexico).5