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The chromosome region containing the highly polymorphic HLA class I genes displays limited large scale variability in the human population.
Author(s) -
Chimini G.,
Pontarotti P.,
Nguyen C.,
Toubert A.,
Boretto J.,
Jordan B. R.
Publication year - 1988
Publication title -
the embo journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.484
H-Index - 392
eISSN - 1460-2075
pISSN - 0261-4189
DOI - 10.1002/j.1460-2075.1988.tb02826.x
Subject(s) - population , humanities , biology , philosophy , demography , sociology
The large‐scale organization and polymorphism of the HLA class I region was investigated by pulsed field gel (PFG) fractionation of DNA from various HLA‐typed cell lines cleaved by different ‘rare cutter’ restriction enzymes, followed by hybridization with ‘general’ and locus‐specific HLA probes. Results indicate that (i) most HLA class I sequences are contained in a 340 kb MluI DNA fragment which also carries the HLA‐A gene; (ii) HLA‐A, ‐B and ‐C genes are present on different fragments bounded by ‘HTF islands’ (CpG‐rich, unmethylated DNA regions containing multiple sites for ‘rare cutter’ enzymes) which generally coincide with the 5′ regions of expressed genes; and (iii) very little fragment size polymorphism is seen, implying that expansion/contraction events in the HLA class I region due to unequal crossing over (as documented in the mouse class I system) are infrequently found in the human population.