2 ETHNIC-SPECIFIC POLYMORPHISMS IN THE HUMAN BETA-PSEUDOGENE OF HEMOGLOBIN

Two polymorphic sites, -107 C --> T and -100 G --> C with respect to t he cap site of the human beta pseudogene of the hemoglobin gene, are d escribed. They have been studied in five European, one Indian, two Asi an, and two sub-Saharan African populations. The -107 C -->T site turn ed out to be polymorphic in all five European populations and the Indi an population (pooled q = 0.142 +/- 0.018) and in the two Asian popula tions (pooled q = 0.073 +/- 0.025), but it was monomorphic in the two sub-Saharan populations. On the contrary, the -100 G --> C site was po lymorphic in the two sub-Saharan samples (q = 0.093 +/- 0.024), but th e variant allele was not found in any of the European, Indian, or Asia n samples. Thus this only g-bp-long stretch of DNA is informative for estimating the extent of genetic admixture in sub-Saharan Africans.