人类凝血因子IX基因中的Alu重复序列：多态性速率并未显著升高。

Alu repeats in the human factor IX gene: the rate of polymorphism is not substantially elevated.

作者信息

Dutton C M, Bottema C D, Sommer S S

机构信息

Department of Biochemistry and Molecular Biology, Mayo Clinic/Foundation, Rochester, Minnesota 55905.

出版信息

Hum Mutat. 1993;2(6):468-72. doi: 10.1002/humu.1380020607.

DOI:10.1002/humu.1380020607

PMID:8111414

Abstract

Previous data suggested an elevated rate of polymorphism in Alu sequences. Direct genomic sequencing was performed on five Alu repeats in the factor IX gene in at least 20 unrelated males of European and Asian descent (40 kb total). In these Alu sequences, the estimated rate of polymorphism in Caucasians (HE = 7.1 x 10(-4); HN = 4.5 x 10(-4) is similar to previously examined nonrepetitive sequences in the factor IX gene, and about twofold lower than previous estimates of the average rate of polymorphism for the X-chromosome which utilized random genomic clones to detect RFLPs. The aggregate data on the rate of polymorphism in Alu sequences suggest that mutations due to gene conversions at these sites are infrequent.

摘要

先前的数据表明Alu序列中的多态性发生率较高。对至少20名欧洲和亚洲血统的无关男性的凝血因子IX基因中的五个Alu重复序列进行了直接基因组测序（总计40 kb）。在这些Alu序列中，白种人中的多态性估计发生率（杂合度HE = 7.1×10⁻⁴；核苷酸多样性HN = 4.5×10⁻⁴）与先前检测的凝血因子IX基因中的非重复序列相似，并且比先前利用随机基因组克隆检测限制性片段长度多态性（RFLP）的X染色体多态性平均发生率估计值低约两倍。关于Alu序列多态性发生率的总体数据表明，这些位点因基因转换导致的突变很少见。