DOI: 10.1007/bf00293024. An estimate of unique DNA sequence heterozygosity in the human genome

An estimate of unique DNA sequence heterozygosity in the human genome

10.1007/bf00293024

Crossref journal-article

Springer Science and Business Media LLC

Human Genetics (297)

Bibliography

Cooper, D. N., Smith, B. A., Cooke, H. J., Niemann, S., & Schmidtke, J. (1985). An estimate of unique DNA sequence heterozygosity in the human genome. Human Genetics, 69(3), 201â205.

Authors 5

David N. Cooper (first)
Barbara A. Smith (additional)
Howard J. Cooke (additional)
Susanne Niemann (additional)
J�rg Schmidtke (additional)

References 27 Referenced 189

Aldridge J, Kunkel L, Bruns G, Tantravahi U, LaLande M, Brewster T, Moreau E, Wilson M, Bromley W, Roderick T, Latt S (1984) A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet 36:546?564 / Am J Hum Genet by J Aldridge (1984)
Barker D, Schäfer M, White R (1984) Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell 36:131?138 (10.1016/0092-8674(84)90081-3) / Cell by D Barker (1984)
Bird AP (1980) DNA methylation and the frequency of CpG in animal DNA. Nucleic Acids Res 8:1499?1504 (10.1093/nar/8.7.1499) / Nucleic Acids Res by AP Bird (1980)
Cooper DN (1983) Eukaryotic DNA methylation. Hum Genet 64:315?333 (10.1007/BF00292363) / Hum Genet by DN Cooper (1983)
Cooper DN, Schmidtke J (1984) DNA restriction fragment length polymorphisms and heterozygosity in the human genome. Hum Genet 66:1?16 (10.1007/BF00275182) / Hum Genet by DN Cooper (1984)
Coulondre C, Miller JH, Farabaugh PJ, Gilbert W (1978) Molecular basis of base substitution hotspots in Escherichia coli. Nature 274:775?778 (10.1038/274775a0) / Nature by C Coulondre (1978)
Denhardt D (1966) A membrane filter technique for the detection of complementary DNA. Biochim Biophys Acta 23:641?646 / Biochim Biophys Acta by D Denhardt (1966)
Helentjaris T, Gesteland R (1983) Evolution of random cDNA clones as probes for human restriction fragment polymorphisms. J Mol Appl Genet 2:237?247 / J Mol Appl Genet by T Helentjaris (1983)
Jeffreys AJ (1979) DNA sequence variants in the G?A?, ?- and ?-globin genes of man. Cell 18:1?10 (10.1016/0092-8674(79)90348-9) / Cell by AJ Jeffreys (1979)
Karn J, Brenner S, Barnett L, Cesareni G (1980) Novel bacteriophage cloning vector. Proc Natl Acad Sci USA 77:5172?5176 (10.1073/pnas.77.9.5172) / Proc Natl Acad Sci USA by J Karn (1980)
Kimura M (1983) The neutral theory of molecular evolution. Cambridge University Press, Cambridge (10.1017/CBO9780511623486) / The neutral theory of molecular evolution by M Kimura (1983)
Krumlauf R, Jeanpierre M, Young BD (1982) Construction and characterisation of genomic libraries from specific human chromosomes. Proc Natl Acad Sci USA 79:2971?2975 (10.1073/pnas.79.9.2971) / Proc Natl Acad Sci USA by R Krumlauf (1982)
Lewin B (1980) Gene expression: vol 2, Eukaryotic chromosomes. John Wiley, New York / Gene expression: vol 2, Eukaryotic chromosomes by B Lewin (1980)
Lund E, Bostock C, Robertson M, Christie S, Mitchen JL, Dahlberg JE (1983) U1 Small nuclear RNA genes are located on human chromosome 1 and are expressed in mouse-human hybrid cells. Mol Cell Biol 3:2211?2220 (10.1128/MCB.3.12.2211) / Mol Cell Biol by E Lund (1983)
Maniatis T, Fritsch EF, Sambrock J (1982) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, New York / Molecular cloning: a laboratory manual by T Maniatis (1982)
Murray JC, Demopulos CM, Lawn RM, Motulsky AG (1983) Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia. Proc Natl Acad Sci USA 80:5951?5955 (10.1073/pnas.80.19.5951) / Proc Natl Acad Sci USA by JC Murray (1983)
Nei M (1975) Molecular population genetics and evolution North Holland Publishing Company, Amsterdam / Molecular population genetics and evolution by M Nei (1975)
Ohno S (1967) Sex chromosomes and sex-linked genes. Springer, Berlin (10.1007/978-3-642-88178-7) / Sex chromosomes and sex-linked genes by S Ohno (1967)
Rigby PWJ, Dieckmann M, Rhodes C, Berg P (1977) Labelling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol 113:237?251 (10.1016/0022-2836(77)90052-3) / J Mol Biol by PWJ Rigby (1977)
Salser W (1978) Globin mRNA sequences: analysis of base pairing and evolutionary implications. Cold Spring Harbor Symp Quant Biol 42:985?1002 (10.1101/SQB.1978.042.01.099) / Cold Spring Harbor Symp Quant Biol by W Salser (1978)
Skolnick MH, White R (1982) Strategy for detecting and characterizing restriction fragment length polymorphisms (RFLPs). Cytogenet Cell Genet 32:58?67 (10.1159/000131687) / Cytogenet Cell Genet by MH Skolnick (1982)
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503?517 (10.1016/S0022-2836(75)80083-0) / J Mol Biol by EM Southern (1975)
Van der Ploeg LHT, Flavell RA (1980) DNA methylation in the human ???-globin locus in erythroid and nonerythroid tissues. Cell 19:947?958 (10.1016/0092-8674(80)90086-0) / Cell by LHT Ploeg Van der (1980)
Vogel F (1972) Non-randomness of base replacement in point mutation. J Mol Evol 1:334?367 (10.1007/BF01653962) / J Mol Evol by F Vogel (1972)
Vogel F, Kopun M (1977) Higher frequencies of transitions among point mutations. J Mol Evol 9:159?180 (10.1007/BF01732746) / J Mol Evol by F Vogel (1977)
Vogel F, Motulsky AG (1982) Human Genetics. Springer, Berlin / Human Genetics by F Vogel (1982)
Wieacker P, Davies KE, Cooke HJ, Pearson PL, Williamson R, Bhattacharya S, Zimmer J, Ropers HH (1984) Toward a complete linkage map of the human X chromosome: regional assignment of somatic cell hybrids. Am J Hum Genet 36:256?276 / Am J Hum Genet by P Wieacker (1984)

Dates

Type	When
Created	20 years, 9 months ago (Nov. 9, 2004, 11:39 a.m.)
Deposited	6 years, 4 months ago (April 8, 2019, 4:11 p.m.)
Indexed	4 weeks, 1 day ago (Aug. 3, 2025, 12:04 a.m.)
Issued	40 years, 6 months ago (March 1, 1985)
Published	40 years, 6 months ago (March 1, 1985)
Published Print	40 years, 6 months ago (March 1, 1985)

Funders 0

None

BibTeX

@article{Cooper_1985, title={An estimate of unique DNA sequence heterozygosity in the human genome}, volume={69}, ISSN={1432-1203}, url={http://dx.doi.org/10.1007/bf00293024}, DOI={10.1007/bf00293024}, number={3}, journal={Human Genetics}, publisher={Springer Science and Business Media LLC}, author={Cooper, David N. and Smith, Barbara A. and Cooke, Howard J. and Niemann, Susanne and Schmidtke, J�rg}, year={1985}, month=mar, pages={201–205} }

JSON

{
  "indexed": {
    "date-parts": [
      [
        2025,
        8,
        3
      ]
    ],
    "date-time": "2025-08-03T04:04:50Z",
    "timestamp": 1754193890482
  },
  "reference-count": 27,
  "publisher": "Springer Science and Business Media LLC",
  "issue": "3",
  "license": [
    {
      "start": {
        "date-parts": [
          [
            1985,
            3,
            1
          ]
        ],
        "date-time": "1985-03-01T00:00:00Z",
        "timestamp": 478483200000
      },
      "content-version": "tdm",
      "delay-in-days": 0,
      "URL": "http://www.springer.com/tdm"
    }
  ],
  "content-domain": {
    "domain": [],
    "crossmark-restriction": false
  },
  "published-print": {
    "date-parts": [
      [
        1985,
        3
      ]
    ]
  },
  "DOI": "10.1007/bf00293024",
  "type": "journal-article",
  "created": {
    "date-parts": [
      [
        2004,
        11,
        9
      ]
    ],
    "date-time": "2004-11-09T16:39:18Z",
    "timestamp": 1100018358000
  },
  "page": "201-205",
  "source": "Crossref",
  "is-referenced-by-count": 189,
  "title": "An estimate of unique DNA sequence heterozygosity in the human genome",
  "prefix": "10.1007",
  "volume": "69",
  "author": [
    {
      "given": "David N.",
      "family": "Cooper",
      "sequence": "first",
      "affiliation": []
    },
    {
      "given": "Barbara A.",
      "family": "Smith",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Howard J.",
      "family": "Cooke",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "Susanne",
      "family": "Niemann",
      "sequence": "additional",
      "affiliation": []
    },
    {
      "given": "J\ufffdrg",
      "family": "Schmidtke",
      "sequence": "additional",
      "affiliation": []
    }
  ],
  "member": "297",
  "reference": [
    {
      "key": "CR1",
      "first-page": "546",
      "volume": "36",
      "author": "J Aldridge",
      "year": "1984",
      "unstructured": "Aldridge J, Kunkel L, Bruns G, Tantravahi U, LaLande M, Brewster T, Moreau E, Wilson M, Bromley W, Roderick T, Latt S (1984) A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet 36:546?564",
      "journal-title": "Am J Hum Genet"
    },
    {
      "key": "CR2",
      "doi-asserted-by": "crossref",
      "first-page": "131",
      "DOI": "10.1016/0092-8674(84)90081-3",
      "volume": "36",
      "author": "D Barker",
      "year": "1984",
      "unstructured": "Barker D, Sch\u00e4fer M, White R (1984) Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell 36:131?138",
      "journal-title": "Cell"
    },
    {
      "key": "CR3",
      "doi-asserted-by": "crossref",
      "first-page": "1499",
      "DOI": "10.1093/nar/8.7.1499",
      "volume": "8",
      "author": "AP Bird",
      "year": "1980",
      "unstructured": "Bird AP (1980) DNA methylation and the frequency of CpG in animal DNA. Nucleic Acids Res 8:1499?1504",
      "journal-title": "Nucleic Acids Res"
    },
    {
      "key": "CR4",
      "doi-asserted-by": "crossref",
      "first-page": "315",
      "DOI": "10.1007/BF00292363",
      "volume": "64",
      "author": "DN Cooper",
      "year": "1983",
      "unstructured": "Cooper DN (1983) Eukaryotic DNA methylation. Hum Genet 64:315?333",
      "journal-title": "Hum Genet"
    },
    {
      "key": "CR5",
      "doi-asserted-by": "crossref",
      "first-page": "1",
      "DOI": "10.1007/BF00275182",
      "volume": "66",
      "author": "DN Cooper",
      "year": "1984",
      "unstructured": "Cooper DN, Schmidtke J (1984) DNA restriction fragment length polymorphisms and heterozygosity in the human genome. Hum Genet 66:1?16",
      "journal-title": "Hum Genet"
    },
    {
      "key": "CR6",
      "doi-asserted-by": "crossref",
      "first-page": "775",
      "DOI": "10.1038/274775a0",
      "volume": "274",
      "author": "C Coulondre",
      "year": "1978",
      "unstructured": "Coulondre C, Miller JH, Farabaugh PJ, Gilbert W (1978) Molecular basis of base substitution hotspots in Escherichia coli. Nature 274:775?778",
      "journal-title": "Nature"
    },
    {
      "key": "CR7",
      "first-page": "641",
      "volume": "23",
      "author": "D Denhardt",
      "year": "1966",
      "unstructured": "Denhardt D (1966) A membrane filter technique for the detection of complementary DNA. Biochim Biophys Acta 23:641?646",
      "journal-title": "Biochim Biophys Acta"
    },
    {
      "key": "CR8",
      "first-page": "237",
      "volume": "2",
      "author": "T Helentjaris",
      "year": "1983",
      "unstructured": "Helentjaris T, Gesteland R (1983) Evolution of random cDNA clones as probes for human restriction fragment polymorphisms. J Mol Appl Genet 2:237?247",
      "journal-title": "J Mol Appl Genet"
    },
    {
      "key": "CR9",
      "doi-asserted-by": "crossref",
      "first-page": "1",
      "DOI": "10.1016/0092-8674(79)90348-9",
      "volume": "18",
      "author": "AJ Jeffreys",
      "year": "1979",
      "unstructured": "Jeffreys AJ (1979) DNA sequence variants in the G?A?, ?- and ?-globin genes of man. Cell 18:1?10",
      "journal-title": "Cell"
    },
    {
      "key": "CR10",
      "doi-asserted-by": "crossref",
      "first-page": "5172",
      "DOI": "10.1073/pnas.77.9.5172",
      "volume": "77",
      "author": "J Karn",
      "year": "1980",
      "unstructured": "Karn J, Brenner S, Barnett L, Cesareni G (1980) Novel bacteriophage cloning vector. Proc Natl Acad Sci USA 77:5172?5176",
      "journal-title": "Proc Natl Acad Sci USA"
    },
    {
      "key": "CR11",
      "doi-asserted-by": "crossref",
      "DOI": "10.1017/CBO9780511623486",
      "volume-title": "The neutral theory of molecular evolution",
      "author": "M Kimura",
      "year": "1983",
      "unstructured": "Kimura M (1983) The neutral theory of molecular evolution. Cambridge University Press, Cambridge"
    },
    {
      "key": "CR12",
      "doi-asserted-by": "crossref",
      "first-page": "2971",
      "DOI": "10.1073/pnas.79.9.2971",
      "volume": "79",
      "author": "R Krumlauf",
      "year": "1982",
      "unstructured": "Krumlauf R, Jeanpierre M, Young BD (1982) Construction and characterisation of genomic libraries from specific human chromosomes. Proc Natl Acad Sci USA 79:2971?2975",
      "journal-title": "Proc Natl Acad Sci USA"
    },
    {
      "key": "CR13",
      "volume-title": "Gene expression: vol 2, Eukaryotic chromosomes",
      "author": "B Lewin",
      "year": "1980",
      "unstructured": "Lewin B (1980) Gene expression: vol 2, Eukaryotic chromosomes. John Wiley, New York"
    },
    {
      "key": "CR14",
      "doi-asserted-by": "crossref",
      "first-page": "2211",
      "DOI": "10.1128/MCB.3.12.2211",
      "volume": "3",
      "author": "E Lund",
      "year": "1983",
      "unstructured": "Lund E, Bostock C, Robertson M, Christie S, Mitchen JL, Dahlberg JE (1983) U1 Small nuclear RNA genes are located on human chromosome 1 and are expressed in mouse-human hybrid cells. Mol Cell Biol 3:2211?2220",
      "journal-title": "Mol Cell Biol"
    },
    {
      "key": "CR15",
      "volume-title": "Molecular cloning: a laboratory manual",
      "author": "T Maniatis",
      "year": "1982",
      "unstructured": "Maniatis T, Fritsch EF, Sambrock J (1982) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, New York"
    },
    {
      "key": "CR16",
      "doi-asserted-by": "crossref",
      "first-page": "5951",
      "DOI": "10.1073/pnas.80.19.5951",
      "volume": "80",
      "author": "JC Murray",
      "year": "1983",
      "unstructured": "Murray JC, Demopulos CM, Lawn RM, Motulsky AG (1983) Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia. Proc Natl Acad Sci USA 80:5951?5955",
      "journal-title": "Proc Natl Acad Sci USA"
    },
    {
      "key": "CR17",
      "volume-title": "Molecular population genetics and evolution",
      "author": "M Nei",
      "year": "1975",
      "unstructured": "Nei M (1975) Molecular population genetics and evolution North Holland Publishing Company, Amsterdam"
    },
    {
      "key": "CR18",
      "doi-asserted-by": "crossref",
      "DOI": "10.1007/978-3-642-88178-7",
      "volume-title": "Sex chromosomes and sex-linked genes",
      "author": "S Ohno",
      "year": "1967",
      "unstructured": "Ohno S (1967) Sex chromosomes and sex-linked genes. Springer, Berlin"
    },
    {
      "key": "CR19",
      "doi-asserted-by": "crossref",
      "first-page": "237",
      "DOI": "10.1016/0022-2836(77)90052-3",
      "volume": "113",
      "author": "PWJ Rigby",
      "year": "1977",
      "unstructured": "Rigby PWJ, Dieckmann M, Rhodes C, Berg P (1977) Labelling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol 113:237?251",
      "journal-title": "J Mol Biol"
    },
    {
      "key": "CR20",
      "doi-asserted-by": "crossref",
      "first-page": "985",
      "DOI": "10.1101/SQB.1978.042.01.099",
      "volume": "42",
      "author": "W Salser",
      "year": "1978",
      "unstructured": "Salser W (1978) Globin mRNA sequences: analysis of base pairing and evolutionary implications. Cold Spring Harbor Symp Quant Biol 42:985?1002",
      "journal-title": "Cold Spring Harbor Symp Quant Biol"
    },
    {
      "key": "CR21",
      "doi-asserted-by": "crossref",
      "first-page": "58",
      "DOI": "10.1159/000131687",
      "volume": "32",
      "author": "MH Skolnick",
      "year": "1982",
      "unstructured": "Skolnick MH, White R (1982) Strategy for detecting and characterizing restriction fragment length polymorphisms (RFLPs). Cytogenet Cell Genet 32:58?67",
      "journal-title": "Cytogenet Cell Genet"
    },
    {
      "key": "CR22",
      "doi-asserted-by": "crossref",
      "first-page": "503",
      "DOI": "10.1016/S0022-2836(75)80083-0",
      "volume": "98",
      "author": "EM Southern",
      "year": "1975",
      "unstructured": "Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503?517",
      "journal-title": "J Mol Biol"
    },
    {
      "key": "CR23",
      "doi-asserted-by": "crossref",
      "first-page": "947",
      "DOI": "10.1016/0092-8674(80)90086-0",
      "volume": "19",
      "author": "LHT Ploeg Van der",
      "year": "1980",
      "unstructured": "Van der Ploeg LHT, Flavell RA (1980) DNA methylation in the human ???-globin locus in erythroid and nonerythroid tissues. Cell 19:947?958",
      "journal-title": "Cell"
    },
    {
      "key": "CR24",
      "doi-asserted-by": "crossref",
      "first-page": "334",
      "DOI": "10.1007/BF01653962",
      "volume": "1",
      "author": "F Vogel",
      "year": "1972",
      "unstructured": "Vogel F (1972) Non-randomness of base replacement in point mutation. J Mol Evol 1:334?367",
      "journal-title": "J Mol Evol"
    },
    {
      "key": "CR25",
      "doi-asserted-by": "crossref",
      "first-page": "159",
      "DOI": "10.1007/BF01732746",
      "volume": "9",
      "author": "F Vogel",
      "year": "1977",
      "unstructured": "Vogel F, Kopun M (1977) Higher frequencies of transitions among point mutations. J Mol Evol 9:159?180",
      "journal-title": "J Mol Evol"
    },
    {
      "key": "CR26",
      "volume-title": "Human Genetics",
      "author": "F Vogel",
      "year": "1982",
      "unstructured": "Vogel F, Motulsky AG (1982) Human Genetics. Springer, Berlin"
    },
    {
      "key": "CR27",
      "first-page": "256",
      "volume": "36",
      "author": "P Wieacker",
      "year": "1984",
      "unstructured": "Wieacker P, Davies KE, Cooke HJ, Pearson PL, Williamson R, Bhattacharya S, Zimmer J, Ropers HH (1984) Toward a complete linkage map of the human X chromosome: regional assignment of somatic cell hybrids. Am J Hum Genet 36:256?276",
      "journal-title": "Am J Hum Genet"
    }
  ],
  "container-title": "Human Genetics",
  "original-title": [],
  "language": "en",
  "link": [
    {
      "URL": "http://link.springer.com/content/pdf/10.1007/BF00293024.pdf",
      "content-type": "application/pdf",
      "content-version": "vor",
      "intended-application": "text-mining"
    },
    {
      "URL": "http://link.springer.com/article/10.1007/BF00293024/fulltext.html",
      "content-type": "text/html",
      "content-version": "vor",
      "intended-application": "text-mining"
    },
    {
      "URL": "http://link.springer.com/content/pdf/10.1007/BF00293024",
      "content-type": "unspecified",
      "content-version": "vor",
      "intended-application": "similarity-checking"
    }
  ],
  "deposited": {
    "date-parts": [
      [
        2019,
        4,
        8
      ]
    ],
    "date-time": "2019-04-08T20:11:34Z",
    "timestamp": 1554754294000
  },
  "score": 1,
  "resource": {
    "primary": {
      "URL": "http://link.springer.com/10.1007/BF00293024"
    }
  },
  "subtitle": [],
  "short-title": [],
  "issued": {
    "date-parts": [
      [
        1985,
        3
      ]
    ]
  },
  "references-count": 27,
  "journal-issue": {
    "issue": "3",
    "published-print": {
      "date-parts": [
        [
          1985,
          3
        ]
      ]
    }
  },
  "alternative-id": [
    "BF00293024"
  ],
  "URL": "http://dx.doi.org/10.1007/BF00293024",
  "relation": {},
  "ISSN": [
    "0340-6717",
    "1432-1203"
  ],
  "subject": [],
  "container-title-short": "Hum Genet",
  "published": {
    "date-parts": [
      [
        1985,
        3
      ]
    ]
  }
}