Graham J B, Kunkel G R, Egilmez N K, Wallmark A, Fowlkes D M, Lord S T
Department of Pathology, University of North Carolina, Chapel Hill 27599-7525.
Am J Hum Genet. 1991 Sep;49(3):537-44.
Five RFLPS of X-linked coagulation factor IX were evaluated in more than 500 normal persons (723-804 X chromosomes) of both sexes who belonged to eight ethnic groups: Anglo-Americans, Basques, Swedes, African-Americans, East Africans, East Indians, Chinese, and Malays. The polymorphisms, 5' to 3', were BamHI, XmnI, TaqI, MnlI, and HhaI. A PCR procedure was developed for three previously described RFLPs-XmnI, TaqI, and MnlI; a PCRP procedure was developed for BamHI, and a PCRP which had been described by others was used for HhaI. Europeans were the most polymorphic, African-Americans and East Africans were intermediate, and Orientals were the least polymorphic. Extragenic 3' HhaI was highly polymorphic in most groups, and extragenic 5' BamHI was polymorphic only in persons with African ancestry. Two major haplotypes predominated among 247 men, and the expected and observed heterozygosities were concordant among women. Allelic association was very strong between the three intragenic PCRPs; it was present but weak between 5' extragenic BamHI and XmnI. No association was found between 3' extragenic HhaI and MnlI.
对属于八个种族群体（英裔美国人、巴斯克人、瑞典人、非裔美国人、东非人、东印度人、中国人和马来人）的500多名正常男女（723 - 804条X染色体）进行了X连锁凝血因子IX的5种限制性片段长度多态性（RFLP）评估。这些多态性从5'到3'分别是BamHI、XmnI、TaqI、MnlI和HhaI。针对之前描述的3种RFLP（XmnI、TaqI和MnlI）开发了一种聚合酶链反应（PCR）程序；针对BamHI开发了一种聚合酶链反应引物延伸预扩增（PCRP）程序，并且使用了他人描述的针对HhaI的PCRP程序。欧洲人多态性最高，非裔美国人和东非人居中，而东方人多态性最低。基因外3'HhaI在大多数群体中高度多态，而基因外5'BamHI仅在有非洲血统的人群中具有多态性。在247名男性中，两种主要单倍型占主导地位，并且在女性中预期杂合度和观察到的杂合度是一致的。三个基因内PCRP之间的等位基因关联非常强；5'基因外BamHI和XmnI之间存在关联但较弱。在3'基因外HhaI和MnlI之间未发现关联。
