VALIDATION OF HAPLOTYPE FREQUENCY ESTIMATION METHODS

In order to investigate the performance of haplotype frequency estimat ion methods using unrelated individuals, we compared the results of th ree estimation methods with those from the haplotypes deduced from fam ily pedigrees. To chat end we used the HLA phenotypes of the parents o f 1040 families as data for the estimation methods and the full pedigr ee information as data for the deductive method. We evaluated the resu lts of the following estimation methods: the method using two by two t ables described by Mattiuz et al., the maximum likelihood method descr ibed by Yasuda and Tsuji and a crude method that uses the information on homozygosity in the phenotypes. All estimation methods generate rel iable haplotype frequencies for the more frequent haplotypes, but are unreliable for the less frequent haplotypes. The maximum likelihood es timation method shows the Lest overall correlation with the results of the deductive method. Human Immunology 59, 518-523 (1998). (C) Americ an Society for Histocompatibility and Immunogenetics, 1998. Published by Elsevier Science Inc.