Abstract
We have analysed HLA class II polymorphism at the DNA level in coeliac patients. 25 patients and 35 controls were studied on Southern blot using restriction enzymes TaqI, MspI, PstI and BgIII together with gene specific probes for DRα, DQα, DQβ, DPα, DOβ and DZα genes. Twelve families of 12 patients; a total of 35 healthy family members, were used to analyse class II haplotypes.
TaqI enzyme generated a fragment of 4.8 kb in size which could be visualized with DQα probe. This fragment was present in all patients but only in 27% of the controls. In 12 families studied, the fragment was present in 83% of the parents and 70% of the healthy siblings. The haplotype analysis revealed the frequency of the fragment to be 70% of the patients' haplotypes, 47% of the parents' and 30% of the healthy siblings' haplotypes. The fragment was present in 11 DR3 positive haplotypes which all differed in class I alleles from each other and it was absent in one DR3 positive haplotype. The fragment was also present in two DR5 positive haplotypes. A detailed RFLP analysis will be given on class II genes on haplotypes.
This fragment shows the strongest association to the coeliac disease shown thus far.
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Koskimies, S., Lipsanen, V., Mäki, M. et al. RESTRUCTION FRAGMENT LENGHT POLYMORPHISM OF HLA CLASS II GENES IN COELIAC PATIENTS, THEIR FAMILY MEMBERS AND CONTROLS. Pediatr Res 26, 274 (1989). https://doi.org/10.1203/00006450-198909000-00063
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DOI: https://doi.org/10.1203/00006450-198909000-00063