HLA gene and haplotype frequencies in the North American population - The National Marrow Donor Program Donor Registry
HLA gene and haplotype frequencies in the North American population - The National Marrow Donor Program Donor Registry
复制标题
DOI：
10.1097/00007890-199710150-00014
复制
发表时间：
1997-10-15
期刊：
影响因子：
6.2
通讯作者：
Milford, EL
中科院分区：
文献类型：
--
作者：
Mori, M;Beatty, PG;Milford, EL
背景截至1995年5月1日，国家骨髓捐献者计划有一个捐献者登记册，其中包括从美国大多数主要城市和州招募的135万多名HLA分型志愿者。该注册表代表了世界上最大的单个正常个体HLA分型库。我们分析了HLA-A、-B、-DR位点表型，以估计美国主要种族群体的基因和单倍型频率：高加索美国人、亚裔美国人、非洲裔美国人、拉丁美洲人和印第安人。大规模的数据库使我们能够计算相对罕见的抗原和单倍型的频率，比以前的研究更准确。我们在1，351，260名HLA-A，-B型供者中观察到89，522种可区分的HLA-A，-B表型，在406，503名HLA-A，-B，-DR型供者中观察到302，867种可区分的HLA-A，-B，-DR表型。基因和单倍型频率在5个种族群体中差异显著，非洲裔美国人和亚裔美国人具有大量的单倍型，这些单倍型是其种族群体特有的，而高加索裔美国人、拉丁美洲人和美洲原住民共享一些共同的单倍型。这些数据为移植和群体遗传学领域的研究人员提供了重要的资源。基因和单倍型频率可用于帮助临床医生建议患者在特定种族中找到匹配的概率，或确定供体招募目标和策略，该信息也是对群体遗传学，多态性人类基因的选择和进化以及HLA-疾病关联感兴趣的个人的宝贵资源。
Background. As of May 1, 1995, the National Marrow Donor Program had a donor registry consisting of over 1.35 million HLA-typed volunteers recruited from most major cities and states in the United States. This registry represents the largest single HLA-typed pool of normal individuals in the world,Methods. We analyzed the HLA-A, -B, -DR locus phenotypes of the National Marrow Donor Program donors in order to estimate gene and haplotype frequencies for major racial groups of the United States: Caucasian American, Asian American, African American, Latin American, and Native American. The large size of the database allowed us to calculate the frequencies of relatively rare antigens and haplotypes with more accuracy than previous studies,Results. We observed 89,522 distinguishable HLA-A, -B phenotypes in 1,351,260 HLA-A, -B-typed donors and 302,867 distinguishable HLA-A, -B, -DR phenotypes in 406,503 HLA-A, -B, -DR-typed donors. Gene and haplotype frequencies differed remarkably among the five racial groups, with African Americans and Asian Americans having a large number of haplotypes that were specific to their racial groups, whereas Caucasian Americans, Latin Americans, and Native Americans shared a number of common haplotypes.Conclusions. These data represent an important resource for investigators in the fields of transplantation and population genetics. The gene and haplotype frequencies can be used to aid clinicians in advising patients about the probability of finding a match within a specific ethnic group, or to determine donor recruitment goals and strategies, The information is also a valuable resource for individuals who are interested in population genetics, selection and evolution of polymorphic human genes, and HLA-disease association.