Genetics of leukocyte antigens. A family study of segregation and linkage

Ceppellini, R.; Curtoni, E.S.; Mattiuz, P.L.; Miggiano, V.; Scudeller, G.; Serra, A.

Histocompatibility testing Report of a conference and workshop 14-24 June, Torino and Saint-Vincent, Italy 149-187


Accession: 024744862

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By means of monospecific or oligospecific sera 12 antigenic determinants of leukocytes were studied on a population of about 260 unrelated individuals and on 30 families with both parents and a total of 141 children. Gene frequencies of the individual determinants, their association coefficients in the population, segregation and linkage were calculated and discussed. Eleven of the 12 TO determinants, 2 through 12, are closely linked and belong to the main system of leukocyte antigens, now indicated as HLA (system Four of van Rood; LA of Bodmer and Payne; Hu-1 of Dausset and Ivanyi). No recombinants within the HLA system have been ascertained on a total of 718 offspring from double-backcrossmatings. Antigen TO1 (NA1 of Lalezari and Bernard) is genetically unrelated. Both loci, HLA and TO 1, are independent from ABO (<.20). Through family analysis, the chromosomal combinations for the complex HLA alleles (haplotypes) were deduced, often unambiguously: 36 different combinations were found among the 120 haplotypes analyzed. The implications, practical and theoretical, of such a highly polymorphic system are discussed.