HLA Polymorphisms and Haplotype Diversity in Transylvania, Romania

Area of Science:

• Immunogenetics
• Population Genetics
• Anthropology

Background:

• Transylvania, a region in Romania, has a historically diverse population.
• Understanding the genetic makeup of populations is crucial for medical and anthropological research.

Purpose of the Study:

• To determine the human leukocyte antigen (HLA) profiles of a large Transylvanian population sample.
• To compare these HLA profiles with other European population groups.
• To investigate the genetic heterogeneity within the Transylvanian population.

Main Methods:

• Human leukocyte antigen (HLA) genes were analyzed in 2,794 individuals.
• Techniques used included Single Specific Primer-Polymerase Chain Reaction (SSP-PCR) and Polymerase Chain Reaction Sequence-Specific Oligonucleotide (PCR-SSO).
• HLA-A, HLA-B, HLA-C, and HLA-DRB1 loci were examined, with frequencies compared to existing European population data.

Main Results:

• The distribution of HLA genes in the Transylvanian sample was found to be heterogeneous, with a statistically significant deviation from Hardy-Weinberg equilibrium (P < 0.01).
• The most frequent genes identified were A*02 (0.27%), B*35 (0.14%), C*07 (0.25%), and DRB1*11 (0.19%).
• The most common haplotype was A*01~B*08~C*07~DRB1*03 (1.26%).

Conclusions:

• The study confirms the genetic heterogeneity of the Transylvanian population.
• Transylvanian genetic profiles are most similar to those of geographically proximate European populations, including Serbian, Hungarian, Wallachian, and Croatian groups.