Molecular polymorphism of O alleles in five populations of different ethnic origins

Molecular polymorphism of O alleles in five populations of different ethnic origins
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5个不同种族群体O等位基因的分子多态性

DOI:
10.1007/s002510100305
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发表时间:
2001
期刊:
影响因子:
3.2
通讯作者:
A. Blancher
A. Blancher
中科院分区:
医学4区
文献类型:
--
作者:
F. Roubinet;N. Kermarrec;Stéphanie Despiau;P. Apoil;J. Dugoujon;A. Blancher

文献摘要

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抽象的。对来自五个不同种族(巴斯克人、柏柏尔人、象牙海岸的阿肯人和美洲印第安人:厄瓜多尔的卡亚帕人和玻利维亚的艾玛拉人)的317名O表型个体的ABO基因O等位基因外显子6和7的序列进行了研究。共鉴定出21个O等位基因,其中9个与已报道的所有O等位基因不同。这9个等位基因与O01等位基因(9个等位基因中的4个)或O02等位基因(9个等位基因中的5个)相差1到3个点突变。群体样本中不同O等位基因的数量差异很大:阿肯人最多(13个),美洲印第安人最低(5个)。在阿肯人中发现了一些以前报道的频率较低的稀有等位基因,但频率较高。结果还显示,OV7等位基因的频率从南到北(阿肯人、柏柏尔人、巴斯克人)递减。柏柏尔人和巴斯克人共有两个罕见的等位基因Ov6和O03,这在这里研究的其他人群中没有发现。
Abstract. 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.