Restriction endonuclease mapping of the human γ globin gene loci

Dorothy Tuan, P. Andrew Biro, Jon K. Deriel, Herbert Lazarus, Bernard G. Forget

Research output: Contribution to journalArticle

66 Citations (Scopus)

Abstract

The restriction endonuclease sites in and around the human γ globin gene loci have been mapped using the gel blotting technique of Southern, in both normal DNA and DNA from an individual with hereditary persistence of fetal hemoglobin (HPFH). In normal DNA, the γ genes are linked to the δ (and β) globin genes, and the orientation of these genes with respect to transcription is (5′) Gγ→Aγ→γ→β (3′). The distance between the Gγ and Aγ genes is 3.5 kb and that between the Aγ and δ genes is 16 kb. In both normal DNA and HPFH DNA, the γ genes are interrupted by an intervening sequence, approximately 1 kb in length that is situated between codon positions 99 and 121 of the coding sequence. In different DNA samples, there is polymorphism for the presence or absence of a Hind III site in the intervening sequence of either γ globin gene. In HPFH DNA, a deletion of at least 16 kb of DNA has been detected. This deletion starts at a point approximately 12.5 kb from the 3′-end of Agamma; gene and extends through the δ and β globin genes to a point at least 3 kb beyond the 3′-end of β globin gene.

Original languageEnglish (US)
Pages (from-to)2519-2544
Number of pages26
JournalNucleic Acids Research
Volume6
Issue number7
DOIs
StatePublished - Jun 11 1979

Fingerprint

Restriction Mapping
Globins
Genes
DNA
Fetal Hemoglobin
Introns
vif Genes
DNA Restriction Enzymes
Southern Blotting
Codon
Gels

ASJC Scopus subject areas

  • Genetics

Cite this

Tuan, D., Biro, P. A., Deriel, J. K., Lazarus, H., & Forget, B. G. (1979). Restriction endonuclease mapping of the human γ globin gene loci. Nucleic Acids Research, 6(7), 2519-2544. https://doi.org/10.1093/nar/6.7.2519

Restriction endonuclease mapping of the human γ globin gene loci. / Tuan, Dorothy; Biro, P. Andrew; Deriel, Jon K.; Lazarus, Herbert; Forget, Bernard G.

In: Nucleic Acids Research, Vol. 6, No. 7, 11.06.1979, p. 2519-2544.

Research output: Contribution to journalArticle

Tuan, D, Biro, PA, Deriel, JK, Lazarus, H & Forget, BG 1979, 'Restriction endonuclease mapping of the human γ globin gene loci', Nucleic Acids Research, vol. 6, no. 7, pp. 2519-2544. https://doi.org/10.1093/nar/6.7.2519
Tuan D, Biro PA, Deriel JK, Lazarus H, Forget BG. Restriction endonuclease mapping of the human γ globin gene loci. Nucleic Acids Research. 1979 Jun 11;6(7):2519-2544. https://doi.org/10.1093/nar/6.7.2519
Tuan, Dorothy ; Biro, P. Andrew ; Deriel, Jon K. ; Lazarus, Herbert ; Forget, Bernard G. / Restriction endonuclease mapping of the human γ globin gene loci. In: Nucleic Acids Research. 1979 ; Vol. 6, No. 7. pp. 2519-2544.
@article{2d53f26c049d4789a5fdc81ced6bb203,
title = "Restriction endonuclease mapping of the human γ globin gene loci",
abstract = "The restriction endonuclease sites in and around the human γ globin gene loci have been mapped using the gel blotting technique of Southern, in both normal DNA and DNA from an individual with hereditary persistence of fetal hemoglobin (HPFH). In normal DNA, the γ genes are linked to the δ (and β) globin genes, and the orientation of these genes with respect to transcription is (5′) Gγ→Aγ→γ→β (3′). The distance between the Gγ and Aγ genes is 3.5 kb and that between the Aγ and δ genes is 16 kb. In both normal DNA and HPFH DNA, the γ genes are interrupted by an intervening sequence, approximately 1 kb in length that is situated between codon positions 99 and 121 of the coding sequence. In different DNA samples, there is polymorphism for the presence or absence of a Hind III site in the intervening sequence of either γ globin gene. In HPFH DNA, a deletion of at least 16 kb of DNA has been detected. This deletion starts at a point approximately 12.5 kb from the 3′-end of Agamma; gene and extends through the δ and β globin genes to a point at least 3 kb beyond the 3′-end of β globin gene.",
author = "Dorothy Tuan and Biro, {P. Andrew} and Deriel, {Jon K.} and Herbert Lazarus and Forget, {Bernard G.}",
year = "1979",
month = "6",
day = "11",
doi = "10.1093/nar/6.7.2519",
language = "English (US)",
volume = "6",
pages = "2519--2544",
journal = "Nucleic Acids Research",
issn = "0305-1048",
publisher = "Oxford University Press",
number = "7",

}

TY - JOUR

T1 - Restriction endonuclease mapping of the human γ globin gene loci

AU - Tuan, Dorothy

AU - Biro, P. Andrew

AU - Deriel, Jon K.

AU - Lazarus, Herbert

AU - Forget, Bernard G.

PY - 1979/6/11

Y1 - 1979/6/11

N2 - The restriction endonuclease sites in and around the human γ globin gene loci have been mapped using the gel blotting technique of Southern, in both normal DNA and DNA from an individual with hereditary persistence of fetal hemoglobin (HPFH). In normal DNA, the γ genes are linked to the δ (and β) globin genes, and the orientation of these genes with respect to transcription is (5′) Gγ→Aγ→γ→β (3′). The distance between the Gγ and Aγ genes is 3.5 kb and that between the Aγ and δ genes is 16 kb. In both normal DNA and HPFH DNA, the γ genes are interrupted by an intervening sequence, approximately 1 kb in length that is situated between codon positions 99 and 121 of the coding sequence. In different DNA samples, there is polymorphism for the presence or absence of a Hind III site in the intervening sequence of either γ globin gene. In HPFH DNA, a deletion of at least 16 kb of DNA has been detected. This deletion starts at a point approximately 12.5 kb from the 3′-end of Agamma; gene and extends through the δ and β globin genes to a point at least 3 kb beyond the 3′-end of β globin gene.

AB - The restriction endonuclease sites in and around the human γ globin gene loci have been mapped using the gel blotting technique of Southern, in both normal DNA and DNA from an individual with hereditary persistence of fetal hemoglobin (HPFH). In normal DNA, the γ genes are linked to the δ (and β) globin genes, and the orientation of these genes with respect to transcription is (5′) Gγ→Aγ→γ→β (3′). The distance between the Gγ and Aγ genes is 3.5 kb and that between the Aγ and δ genes is 16 kb. In both normal DNA and HPFH DNA, the γ genes are interrupted by an intervening sequence, approximately 1 kb in length that is situated between codon positions 99 and 121 of the coding sequence. In different DNA samples, there is polymorphism for the presence or absence of a Hind III site in the intervening sequence of either γ globin gene. In HPFH DNA, a deletion of at least 16 kb of DNA has been detected. This deletion starts at a point approximately 12.5 kb from the 3′-end of Agamma; gene and extends through the δ and β globin genes to a point at least 3 kb beyond the 3′-end of β globin gene.

UR - http://www.scopus.com/inward/record.url?scp=0018385862&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0018385862&partnerID=8YFLogxK

U2 - 10.1093/nar/6.7.2519

DO - 10.1093/nar/6.7.2519

M3 - Article

C2 - 461196

AN - SCOPUS:0018385862

VL - 6

SP - 2519

EP - 2544

JO - Nucleic Acids Research

JF - Nucleic Acids Research

SN - 0305-1048

IS - 7

ER -