DEFINING THE ALLELIC VARIANTS OF HLA-A30 IN THE SARDINIAN POPULATION USING AMPLIFICATION REFRACTORY MUTATION SYSTEM POLYMERASE CHAIN-REACTION

作者：KRAUSA P^*; CARCASSI C; ORRU S; BODMER JG; BROWNING MJ; CONTU L

来源：Human Immunology, 1995, 44(1): 35-42.

DOI：10.1016/0198-8859(95)00046-7

HLA-A30 is present in the Sardinian population at a frequency of 23%. We have designed a system using nested ARMS-PCR to determine the relative frequencies of the HLA-A*30 allelic variants (A*3001, A*3002, and A*3003) within this population. The use of a nested PCR approach, in which the first-round reaction provides HLA-A*30 specificity and template DNA for the subsequent nested reactions, is a powerful means of discriminating between alleles of very similar sequence. Using this method, we performed subtyping of 35 serologically defined HLA-A30 Sardinian individuals, and taking into account homozygotes, identified 38 A*30 alleles. Of these, 33 typed as A*3002, four typed as A*3001, and one sample did not conform to the patterns of reactivity of any of the published A*30 alleles. Haplotype information showed strong linkage disequilibrium between A*3002 and B18. This study underlines the potential of DNA-based methods for typing HLA class I in terms of adding further levels of definition to studies of population structure and also as a means of identifying new alleles.

• 出版日期1995-9