Polymorphism of the ABO blood group genes in Han, Kazak and Uygur populations in the Silk Route of northwestern China

Genetic polymorphism in the ABO blood group gene of Han, Kazak and Uygur po pulations inhabiting the most northwestern part of China was investigated u sing polymerase chain reaction-based techniques. The present study enrolled 43 healthy unrelated Han, 37 Kazak and 59 Uygur volunteers. The allele in Al blood group is distinguished A0101 and A0102 in difference of nucleotide position 467. The A0101 allele is more frequent in Caucasian and the A0102 allele is characteristic in Mongoloid. It must be notable that A0201 in th e A(2) group (with a single base deletion at nucleotides 1059 to 1061) whic h was characteristic of Caucasian was observed in Kazak and Uygur populatio ns but not in Han. Further O0201 (with no nucleotide deletion at 261 and th ree nucleotide differences), which is frequent in different races including Caucasian except for Mongoloid, was detected also in Kazak and Uygur popul ations. The frequencies of B0101 in Kazak, Uygur and Han were comparable to those of other Asian populations but higher than those of Caucasian popula tions. Collectively, these results reveal that the allele frequencies of Ka zak and Uygur at the ABO blood group locus are an intermediate between thos e of Mongoloid and Caucasian, suggesting the admired feature of Kazak and U ygur with Mongoloid and Caucasian.