Linkage mapping of highly informative DNA polymorphisms within the human interferon-α receptor gene on chromosome 21

Melvin G. McInnis; Georges Lutfalla; Susan Slaugenhaupt; Michael B. Petersen; Gilles Uze; Aravinda Chakravarti; Stylianos E. Antonarakis

doi:10.1016/0888-7543(91)90064-L

Linkage mapping of highly informative DNA polymorphisms within the human interferon-α receptor gene on chromosome 21

Melvin G. McInnis, Georges Lutfalla, Susan Slaugenhaupt, Michael B. Petersen, Gilles Uze, Aravinda Chakravarti, Stylianos E. Antonarakis

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Abstract

Two polymorphic loci within the interferon-α receptor (IFNAR) gene on human chromosome 21 have been identified and mapped by linkage analysis in 40 CEPH families. These markers are (1) a multiallelic RFLP with an observed heterozygosity of 0.72 and (2) a variable (AT₃)_n short sequence repeat at the poly(A) tail of an Alu sequence (AluVpA) with an observed heterozygosity of 0.83. This locus is close to D21S58 (θ̂ = 0.02, Z ̂ = 36.76) and D21S17 (θ̂ = 0.02, Z ̂ = 21.76) within chromosomal band 21q22.1. Multipoint linkage analysis suggests the most likely locus order to be 21cen-D21S58-IFNAR-D21S17-21qter. Given its high heterozygosity, the IFNAR gene can be used as an index marker on human chromosome 21.

Original language	English (US)
Pages (from-to)	573-576
Number of pages	4
Journal	Genomics
Volume	11
Issue number	3
DOIs	https://doi.org/10.1016/0888-7543(91)90064-L
Publication status	Published - 1991
Externally published	Yes

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Genetics

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McInnis, M. G., Lutfalla, G., Slaugenhaupt, S., Petersen, M. B., Uze, G., Chakravarti, A., & Antonarakis, S. E. (1991). Linkage mapping of highly informative DNA polymorphisms within the human interferon-α receptor gene on chromosome 21. Genomics, 11(3), 573-576. https://doi.org/10.1016/0888-7543(91)90064-L

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title = "Linkage mapping of highly informative DNA polymorphisms within the human interferon-α receptor gene on chromosome 21",

abstract = "Two polymorphic loci within the interferon-α receptor (IFNAR) gene on human chromosome 21 have been identified and mapped by linkage analysis in 40 CEPH families. These markers are (1) a multiallelic RFLP with an observed heterozygosity of 0.72 and (2) a variable (AT3)n short sequence repeat at the poly(A) tail of an Alu sequence (AluVpA) with an observed heterozygosity of 0.83. This locus is close to D21S58 (θ̂ = 0.02, Z ̂ = 36.76) and D21S17 (θ̂ = 0.02, Z ̂ = 21.76) within chromosomal band 21q22.1. Multipoint linkage analysis suggests the most likely locus order to be 21cen-D21S58-IFNAR-D21S17-21qter. Given its high heterozygosity, the IFNAR gene can be used as an index marker on human chromosome 21.",

author = "McInnis, {Melvin G.} and Georges Lutfalla and Susan Slaugenhaupt and Petersen, {Michael B.} and Gilles Uze and Aravinda Chakravarti and Antonarakis, {Stylianos E.}",

year = "1991",

doi = "10.1016/0888-7543(91)90064-L",

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AU - McInnis, Melvin G.

AU - Lutfalla, Georges

AU - Slaugenhaupt, Susan

AU - Petersen, Michael B.

AU - Uze, Gilles

AU - Chakravarti, Aravinda

AU - Antonarakis, Stylianos E.

PY - 1991

Y1 - 1991

N2 - Two polymorphic loci within the interferon-α receptor (IFNAR) gene on human chromosome 21 have been identified and mapped by linkage analysis in 40 CEPH families. These markers are (1) a multiallelic RFLP with an observed heterozygosity of 0.72 and (2) a variable (AT3)n short sequence repeat at the poly(A) tail of an Alu sequence (AluVpA) with an observed heterozygosity of 0.83. This locus is close to D21S58 (θ̂ = 0.02, Z ̂ = 36.76) and D21S17 (θ̂ = 0.02, Z ̂ = 21.76) within chromosomal band 21q22.1. Multipoint linkage analysis suggests the most likely locus order to be 21cen-D21S58-IFNAR-D21S17-21qter. Given its high heterozygosity, the IFNAR gene can be used as an index marker on human chromosome 21.

AB - Two polymorphic loci within the interferon-α receptor (IFNAR) gene on human chromosome 21 have been identified and mapped by linkage analysis in 40 CEPH families. These markers are (1) a multiallelic RFLP with an observed heterozygosity of 0.72 and (2) a variable (AT3)n short sequence repeat at the poly(A) tail of an Alu sequence (AluVpA) with an observed heterozygosity of 0.83. This locus is close to D21S58 (θ̂ = 0.02, Z ̂ = 36.76) and D21S17 (θ̂ = 0.02, Z ̂ = 21.76) within chromosomal band 21q22.1. Multipoint linkage analysis suggests the most likely locus order to be 21cen-D21S58-IFNAR-D21S17-21qter. Given its high heterozygosity, the IFNAR gene can be used as an index marker on human chromosome 21.

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10.1016/0888-7543(91)90064-L