Elmgren A, Börjeson C, Svensson L, Rydberg L, Larson G
Department of Clinical Chemistry, Göteborg University Sahlgrenska Hospital, Sweden.
Vox Sang. 1996;70(2):97-103. doi: 10.1111/j.1423-0410.1996.tb01300.x.
The human Lewis gene encodes an alpha(1,3/1,4)-fucosyltransferase responsible for synthesis of the Le(a) and a Le(b) antigens. To define the molecular background for non-functional Lewis genes we have sequenced PCR-amplified DNA fragments from two Le(a-b-) individuals. One was homozygously mutated at nucleotides 202(T --> C) and 314 (C --> T), altering Trp68 to Arg and Thr105 to Met, and the other was homozygously mutated at nucleotides 59 (T --> G) and 1067 (T --> A), altering Leu20 to Arg and Ile356 to Lys. Using PCR we screened for these and additionally one other mutation at nucleotide 508 (G --> A) among 40 Caucasians. Of 15 Le(a-b-) individuals, 7 typed as le59/1067le202/314, 4 as le202/314le202/314 and 1 as le59/1067le59/1067. Of 21 Le(a-b+) and 4 Le(a+b-), 17 typed as LeLe and 7 as Lele202/314. A pedigree study of 8 Lewis-positive individuals showed that the mutations at nucleotides 202 and 314 were located on the same allele.
人类Lewis基因编码一种α(1,3/1,4)-岩藻糖基转移酶，负责合成Le(a)和Le(b)抗原。为了确定无功能Lewis基因的分子背景，我们对两名Le(a-b-)个体的PCR扩增DNA片段进行了测序。其中一名个体在核苷酸202（T→C）和314（C→T）处发生纯合突变，导致Trp68变为Arg，Thr105变为Met；另一名个体在核苷酸59（T→G）和1067（T→A）处发生纯合突变，导致Leu20变为Arg，Ile356变为Lys。我们使用PCR在40名高加索人中筛选了这些突变以及另外一个位于核苷酸508（G→A）处的突变。在15名Le(a-b-)个体中，7名基因型为le59/1067le202/314，4名基因型为le202/314le202/314，1名基因型为le59/1067le59/1067。在21名Le(a-b+)和4名Le(a+b-)个体中，17名基因型为LeLe，7名基因型为Lele202/314。对8名Lewis阳性个体的家系研究表明，核苷酸202和314处的突变位于同一等位基因上。
