Roubinet F, Kermarrec N, Despiau S, Apoil P A, Dugoujon J M, Blancher A
Laboratoire d'Immunogénétique Moléculaire, Université Paul Sabatier, Hôpital Purpan, 1, Place du Docteur Baylac, 31059, Toulouse Cedex, France.
Immunogenetics. 2001 Mar;53(2):95-104. doi: 10.1007/s002510100305.
Sequences of exons 6 and 7 of the O allele of the ABO gene were studied in 317 individuals of the O phenotype from five different ethnic groups (Basques, Berbers, Akans from the Ivory Coast, and Amerindians: Cayapas from Ecuador and Aymaras from Bolivia). Twenty-one O alleles were characterized, among which 9 differed from all O alleles reported to date. The nine alleles differed from either the O01 allele (four out of nine) or O02 allele (five out of nine) by one to three point mutations. The number of different O alleles in population samples varied greatly: the highest number (13) was observed in Akans, and the lowest (5) in Amerindians. Some rare alleles previously reported by others at low frequencies were found with high frequencies in the Akans. The results also revealed a decreasing frequency of Ov7 alleles from south to north (Akans, Berbers, Basques). Berbers and Basques share two rare alleles, Ov6 and O03, which were not encountered in the other populations studied here.
对来自五个不同种族群体（巴斯克人、柏柏尔人、来自象牙海岸的阿坎人以及美洲印第安人：来自厄瓜多尔的卡亚帕人和来自玻利维亚的艾马拉人）的317名O血型个体的ABO基因O等位基因的外显子6和7序列进行了研究。鉴定出了21种O等位基因，其中9种与迄今报道的所有O等位基因不同。这9个等位基因与O01等位基因（9个中的4个）或O02等位基因（9个中的5个）存在1至3个点突变差异。群体样本中不同O等位基因的数量差异很大：阿坎人观察到的数量最多（13个），美洲印第安人最少（5个）。其他人先前报道的一些低频罕见等位基因在阿坎人中高频出现。结果还显示，从南到北（阿坎人、柏柏尔人、巴斯克人）Ov7等位基因的频率逐渐降低。柏柏尔人和巴斯克人共有两种罕见等位基因Ov6和O03，在此研究的其他群体中未发现。
