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II类人类白细胞抗原等位基因多态性:新西兰毛利人群中的DRB1、DQB1和DPB1等位基因及单倍型

Class II HLA allele polymorphism: DRB1, DQB1 and DPB1 alleles and haplotypes in the New Zealand Maori population.

作者信息

Tracey M C, Carter J M

机构信息

Department of Pathology and Molecular Medicine, Wellington School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand.

出版信息

Tissue Antigens. 2006 Oct;68(4):297-302. doi: 10.1111/j.1399-0039.2006.00671.x.

Abstract

Class II alleles of interest to transplantation comprise the DRB1, DQB1 and DPB1 loci. Sequence-based typing was used to determine the class II allelic variability present in New Zealand Maori, a population with close genetic ties to Polynesia and known anthropological and linguistic connections to mainland Asia. The most common DRB1 alleles identified were DRB11201, DRB1110101, DRB10403 and DRB1080302, with frequencies of 21.5%, 14%, 11.25% and 9.25%, respectively. Standard linkages between the DRB1 locus and the DRB3, 4 and 5 loci were maintained, with no novel patterns identified. The most common DQB1 alleles identified were DQB1030101, DQB1060101, DQB1020101, DQB10602 and DQB1050201, with frequencies of 29.5%, 8%, 7.8%, 6.4% and 6.2%, respectively. The most common DPB1 alleles identified were DPB10501, DPB1040101 and DPB1020102, with frequencies of 40.2%, 28.89% and 15.83%, respectively. A total of 80 estimated DRB1-DQB1 two-locus haplotypes were detected. DRB11201-DQB1030101 was the most frequent (15.40%) haplotype, followed by DRB1110101-DQB1030101 (9.97%), DRB10403-DQB1030201 (7.37%) and DRB1080302-DQB1060101 (5.96%). The allelic variation determined is being used in further analysis of the requirement for bone marrow transplantation in the New Zealand Maori population and has implications for optimal ethnic donor distribution on the New Zealand Bone Marrow Donor Registry, anthropological studies and disease association.

摘要

与移植相关的II类等位基因包括DRB1、DQB1和DPB1基因座。采用基于序列的分型方法来确定新西兰毛利人中存在的II类等位基因变异情况。新西兰毛利人与波利尼西亚有着密切的遗传关系,并且在人类学和语言方面与亚洲大陆存在已知的联系。鉴定出的最常见DRB1等位基因是DRB11201、DRB1110101、DRB10403和DRB1080302,频率分别为21.5%、14%、11.25%和9.25%。DRB1基因座与DRB3、4和5基因座之间维持着标准连锁关系,未发现新的模式。鉴定出的最常见DQB1等位基因是DQB1030101、DQB1060101、DQB1020101、DQB10602和DQB1050201,频率分别为29.5%、8%、7.8%、6.4%和6.2%。鉴定出的最常见DPB1等位基因是DPB10501、DPB1040101和DPB1020102,频率分别为40.2%、28.89%和15.83%。总共检测到80种估计的DRB1-DQB1双基因座单倍型。DRB11201-DQB1030101是最常见的单倍型(15.40%),其次是DRB1110101-DQB1030101(9.97%)、DRB10403-DQB1030201(7.37%)和DRB1080302-DQB1060101(5.96%)。所确定的等位基因变异正用于进一步分析新西兰毛利人群体中骨髓移植的需求,并且对新西兰骨髓捐赠者登记处的最佳种族供体分配、人类学研究和疾病关联具有重要意义。

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