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

E. A. Stewart; R. Kopito; A. M. Bowcock

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

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

E. A. Stewart, R. Kopito, A. M. Bowcock

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

Abstract

Erythrocyte surface protein band 3 (EPB3) plays an important role in CO₂ transport in the blood. We have isolated a recombinant λ 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 (θ̂) is 0.00, with a lod score of 11.40 and confidence interval of 0.00 to 0.04.

Original language	English
Pages (from-to)	633-635
Number of pages	3
Journal	Genomics
Volume	5
Issue number	3
DOIs	https://doi.org/10.1016/0888-7543(89)90034-7
State	Published - Oct 1989
Externally published	Yes

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@article{27e5017ae94e4680918cc3a746abaecf,

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 λ 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 ({\^θ}) is 0.00, with a lod score of 11.40 and confidence interval of 0.00 to 0.04.",

author = "Stewart, {E. A.} and R. Kopito and Bowcock, {A. M.}",

note = "Funding Information: We acknowledge Luca Cavalli-Sforza for his support, Mary-Claire King for comments on the manuscript, and Judith R. Kidd for participating in the immort.alization of cell lines for the Stanford-Yale collection of aboriginal populations. We thank Laleh Daneshvar, Bert,a Young, and Joan Hebert for their help and encouragement. and the Human Polymorphism Study Center (Paris) for family DNA. This work was supported in part by NIH Grant GM28428. R. R. K. is a Lucille P. Markey scholar and is funded in part by the Lucille P. Markey Charitable Trust.",

year = "1989",

month = oct,

doi = "10.1016/0888-7543(89)90034-7",

language = "English",

volume = "5",

pages = "633--635",

journal = "Genomics",

issn = "0888-7543",

publisher = "Academic Press Inc.",

number = "3",

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T1 - A PstI polymorphism for the human erythrocyte surface protein band 3 (EPB3) demonstrates close linkage of EPB3 to the nerve growth factor receptor

AU - Stewart, E. A.

AU - Kopito, R.

AU - Bowcock, A. M.

N1 - Funding Information: We acknowledge Luca Cavalli-Sforza for his support, Mary-Claire King for comments on the manuscript, and Judith R. Kidd for participating in the immort.alization of cell lines for the Stanford-Yale collection of aboriginal populations. We thank Laleh Daneshvar, Bert,a Young, and Joan Hebert for their help and encouragement. and the Human Polymorphism Study Center (Paris) for family DNA. This work was supported in part by NIH Grant GM28428. R. R. K. is a Lucille P. Markey scholar and is funded in part by the Lucille P. Markey Charitable Trust.

PY - 1989/10

Y1 - 1989/10

N2 - Erythrocyte surface protein band 3 (EPB3) plays an important role in CO2 transport in the blood. We have isolated a recombinant λ 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 (θ̂) is 0.00, with a lod score of 11.40 and confidence interval of 0.00 to 0.04.

AB - Erythrocyte surface protein band 3 (EPB3) plays an important role in CO2 transport in the blood. We have isolated a recombinant λ 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 (θ̂) is 0.00, with a lod score of 11.40 and confidence interval of 0.00 to 0.04.

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DO - 10.1016/0888-7543(89)90034-7

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C2 - 2575590

AN - SCOPUS:0024745370

SN - 0888-7543

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JO - Genomics

JF - Genomics

IS - 3

ER -

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

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