人类红细胞表面蛋白带3（EPB3）的一种PstI多态性表明EPB3与神经生长因子受体紧密连锁。

A PstI polymorphism for the human erythrocyte surface protein band 3 (EPB3) demonstrates close linkage of EPB3 to the nerve growth factor receptor.

作者信息

Stewart E A, Kopito R, Bowcock A M

机构信息

Department of Genetics, Stanford University Medical Center, California 94305.

出版信息

Genomics. 1989 Oct;5(3):633-5. doi: 10.1016/0888-7543(89)90034-7.

DOI:10.1016/0888-7543(89)90034-7

PMID:2575590

Abstract

Erythrocyte surface protein band 3 (EPB3) plays an important role in CO2 transport in the blood. We have isolated a recombinant lambda bacteriophage that contains coding sequence for the human gene. Sequence analysis demonstrated that the human insert contains a portion of exon 13. A 1.1-kb BamHI fragment revealed a two-allele polymorphism with PstI. Alleles of 1.4 and 0.9/0.5 kb were present in Caucasoids at frequencies of 0.74 and 0.26, respectively. EPB3 has previously been mapped to 17q21-qter by in situ hybridization, and linkage analysis showed that EPB3 is tightly linked to the gene for the nerve growth factor receptor (NGFR). The maximum likelihood estimate of recombination (theta) is 0.00, with a lod score of 11.40 and confidence interval of 0.00 to 0.04.

摘要

红细胞表面蛋白带3（EPB3）在血液中二氧化碳运输中起重要作用。我们分离出了一种重组λ噬菌体，其包含人类基因的编码序列。序列分析表明，人类插入片段包含外显子13的一部分。一个1.1kb的BamHI片段显示出与PstI的双等位基因多态性。在白种人中，1.4kb和0.9/0.5kb的等位基因频率分别为0.74和0.26。此前通过原位杂交已将EPB3定位到17q21-qter，连锁分析表明EPB3与神经生长因子受体（NGFR）基因紧密连锁。重组（θ）的最大似然估计值为0.00，对数优势分数为11.40，置信区间为0.00至0.04。