title: A PstI polymorphism for the human erythrocyte surface protein band 3 (EPB3) demonstrates close linkage of EPB3 to the nerve growth factor receptor.
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.
authors.affiliation: Department of Genetics, Stanford University Medical Center, California 94305.
authors.forename: E A
authors.initials: EA
authors.lastname: Stewart
authors.forename: R
authors.initials: R
authors.lastname: Kopito
authors.forename: A M
authors.initials: AM
authors.lastname: Bowcock
mesh_terms: D000483:Alleles; D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics*; D010582:Bacteriophage lambda / Q000235:genetics; D001483:Base Sequence; D015139:Blotting, Southern; D002886:Chromosomes, Human, Pair 17; D015252:Deoxyribonucleases, Type II Site-Specific; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D009414:Nerve Growth Factors / Q000378:metabolism; D012150:Polymorphism, Restriction Fragment Length; D011956:Receptors, Cell Surface / Q000235:genetics*; D017475:Receptors, Nerve Growth Factor; D011995:Recombination, Genetic; D015183:Restriction Mapping
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte; D009414:Nerve Growth Factors; D011956:Receptors, Cell Surface; D017475:Receptors, Nerve Growth Factor; C024388:CTGCAG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific