Li J, Iwamoto S, Sugimoto N, Okuda H, Kajii E
Department of Legal Medicine and Human Genetics, Jichi Medical School, Tochigi, Japan.
Hum Genet. 1997 May;99(5):573-7. doi: 10.1007/s004390050408.
The Duffy blood group system consists of three alleles, FYA, FYB, and FY. To study the molecular evolution of the three alleles, we established the polymorphism of a dinucleotide (GT) repeat sequence (designated FyGT/C) in the 3' flanking region of the Duffy gene, and studied the relationship between FyGT/C and Duffy polymorphism in Japanese, people of African origin, and chimpanzee. By single-strand conformation polymorphism and sequence analysis, five and two alleles were identified in Japanese and Africans, respectively. In 110 random Japanese, the FyGT/C genotypes observed were in agreement with Hardy-Weinberg law. From the sequence of the chimpanzee Duffy gene, including both flanking regions, FYB was identified as the ancestral gene of the human alleles. The FyGT/C sequences associated with the FY allele of Africans were distinct from those of Duffy positives, whereas the FYB and FYA alleles shared common FyGT/C sequences. Thus, it is suggested that the first split took place between the FYB and FY alleles, and the second between the FYB and FYA alleles.
达菲血型系统由三个等位基因FYA、FYB和FY组成。为了研究这三个等位基因的分子进化，我们确定了达菲基因3'侧翼区域中二核苷酸（GT）重复序列（命名为FyGT/C）的多态性，并研究了日本人群、非洲裔人群和黑猩猩中FyGT/C与达菲多态性之间的关系。通过单链构象多态性和序列分析，在日本人群中鉴定出五个等位基因，在非洲人群中鉴定出两个等位基因。在110名随机选取的日本人中，观察到的FyGT/C基因型符合哈迪-温伯格定律。从黑猩猩达菲基因的序列（包括两侧翼区域）中，FYB被确定为人类等位基因的祖先基因。与非洲人FY等位基因相关的FyGT/C序列与达菲阳性个体的序列不同，而FYB和FYA等位基因共享共同的FyGT/C序列。因此，提示第一次分裂发生在FYB和FY等位基因之间，第二次分裂发生在FYB和FYA等位基因之间。
