• We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
Logo of ajhgLink to Publisher's site
Am J Hum Genet. Apr 1990; 46(4): 776–783.
PMCID: PMC1683648

Five polymorphic microsatellite VNTRs on the human X chromosome.

Abstract

The human genome contains approximately 50,000 copies of an interspersed repeat with the sequence (dT.dG/dA.dC)n, where n = approximately 10-60. We and others have found that several of these repeats have variable lengths in different individuals, with allelic fragments varying in size by multiples of 2 bp. These "microsatellite" variable number of tandem repeats (VNTRs) may be scored by PCR, using unique flanking primers to amplify the repeat-containing regions and resolving the products on DNA sequencing gels. Since few VNTRs have been found on the X chromosome, we screened a flow-sorted X chromosome-specific genomic library for microsatellites. Approximately 25% of the phage clones hybridized to a poly (dT-dG).poly(dA-dC) probe. Of seven X-linked microsatellites present in positive phages, five are polymorphic and three have both eight or more alleles and heterozygosities exceeding 75%. Using PCR to amplify genomic DNAs from hybrid cell panels, we confirmed the X localization of these VNTRs and regionally mapped four of them. The fifth VNTR was regionally mapped by virtue of its tight linkage to DXS87 in Centre du Polymorphisme Humain families. We conclude that whatever factors limit the occurrence of "classical" VNTRs and RFLPs on the X chromosome do not appear to operate in the case of microsatellite VNTRs.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1.5M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Almoguera C, Shibata D, Forrester K, Martin J, Arnheim N, Perucho M. Most human carcinomas of the exocrine pancreas contain mutant c-K-ras genes. Cell. 1988 May 20;53(4):549–554. [PubMed]
  • Benton WD, Davis RW. Screening lambdagt recombinant clones by hybridization to single plaques in situ. Science. 1977 Apr 8;196(4286):180–182. [PubMed]
  • Botstein D, White RL, Skolnick M, Davis RW. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet. 1980 May;32(3):314–331. [PMC free article] [PubMed]
  • Brown CJ, Goss SJ, Lubahn DB, Joseph DR, Wilson EM, French FS, Willard HF. Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism. Am J Hum Genet. 1989 Feb;44(2):264–269. [PMC free article] [PubMed]
  • Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 1988 Dec 9;16(23):11141–11156. [PMC free article] [PubMed]
  • Church GM, Gilbert W. Genomic sequencing. Proc Natl Acad Sci U S A. 1984 Apr;81(7):1991–1995. [PMC free article] [PubMed]
  • Church GM, Kieffer-Higgins S. Multiplex DNA sequencing. Science. 1988 Apr 8;240(4849):185–188. [PubMed]
  • Cooke HJ, Brown WR, Rappold GA. Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal. Nature. 1985 Oct 24;317(6039):687–692. [PubMed]
  • Cooper DN, Smith BA, Cooke HJ, Niemann S, Schmidtke J. An estimate of unique DNA sequence heterozygosity in the human genome. Hum Genet. 1985;69(3):201–205. [PubMed]
  • Donis-Keller H, Green P, Helms C, Cartinhour S, Weiffenbach B, Stephens K, Keith TP, Bowden DW, Smith DR, Lander ES, et al. A genetic linkage map of the human genome. Cell. 1987 Oct 23;51(2):319–337. [PubMed]
  • Dracopoli NC, Stanger BZ, Ito CY, Call KM, Lincoln SE, Lander ES, Housman DE. A genetic linkage map of 27 loci from PND to FY on the short arm of human chromosome I. Am J Hum Genet. 1988 Oct;43(4):462–470. [PMC free article] [PubMed]
  • Drayna D, White R. The genetic linkage map of the human X chromosome. Science. 1985 Nov 15;230(4727):753–758. [PubMed]
  • Hofker MH, Skraastad MI, Bergen AA, Wapenaar MC, Bakker E, Millington-Ward A, van Ommen GJ, Pearson PL. The X chromosome shows less genetic variation at restriction sites than the autosomes. Am J Hum Genet. 1986 Oct;39(4):438–451. [PMC free article] [PubMed]
  • Jeffreys AJ, Wilson V, Thein SL. Hypervariable 'minisatellite' regions in human DNA. Nature. 1985 Mar 7;314(6006):67–73. [PubMed]
  • Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet. 1985 May;37(3):482–498. [PMC free article] [PubMed]
  • Lathrop M, Nakamura Y, O'Connell P, Leppert M, Woodward S, Lalouel JM, White R. A mapped set of genetic markers for human chromosome 9. Genomics. 1988 Nov;3(4):361–366. [PubMed]
  • Litt M, Luty JA. A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. Am J Hum Genet. 1989 Mar;44(3):397–401. [PMC free article] [PubMed]
  • Nakamura Y, Ballard L, Leppert M, O'Connell P, Lathrop GM, Lalouel JM, White R. Isolation and mapping of a polymorphic DNA sequence (pYNH3) on chromosome X [DXS287]. Nucleic Acids Res. 1988 Jun 24;16(12):5705–5705. [PMC free article] [PubMed]
  • Nakamura Y, Lathrop M, Bragg T, Leppert M, O'Connell P, Jones C, Lalouel JM, White R. An extended genetic linkage map of markers for human chromosome 10. Genomics. 1988 Nov;3(4):389–392. [PubMed]
  • Nakamura Y, Lathrop M, O'Connell P, Leppert M, Barker D, Wright E, Skolnick M, Kondoleon S, Litt M, Lalouel JM, et al. A mapped set of DNA markers for human chromosome 17. Genomics. 1988 May;2(4):302–309. [PubMed]
  • Nakamura Y, Leppert M, O'Connell P, Wolff R, Holm T, Culver M, Martin C, Fujimoto E, Hoff M, Kumlin E, et al. Variable number of tandem repeat (VNTR) markers for human gene mapping. Science. 1987 Mar 27;235(4796):1616–1622. [PubMed]
  • Nussbaum RL, Airhart SD, Ledbetter DH. Expression of the fragile (X) chromosome in an interspecific somatic cell hybrid. Hum Genet. 1983;64(2):148–150. [PubMed]
  • O'Connell P, Lathrop GM, Leppert M, Nakamura Y, Müller U, Lalouel JM, White R. Twelve loci form a continuous linkage map for human chromosome 18. Genomics. 1988 Nov;3(4):367–372. [PubMed]
  • O'Connell P, Lathrop GM, Nakamura Y, Leppert ML, Ardinger RH, Murray JL, Lalouel JM, White R. Twenty-eight loci form a continuous linkage map of markers for human chromosome 1. Genomics. 1989 Jan;4(1):12–20. [PubMed]
  • Päbo S. Ancient DNA: extraction, characterization, molecular cloning, and enzymatic amplification. Proc Natl Acad Sci U S A. 1989 Mar;86(6):1939–1943. [PMC free article] [PubMed]
  • Rouleau GA, Haines JL, Bazanowski A, Colella-Crowley A, Trofatter JA, Wexler NS, Conneally PM, Gusella JF. A genetic linkage map of the long arm of human chromosome 22. Genomics. 1989 Jan;4(1):1–6. [PubMed]
  • Royle NJ, Clarkson RE, Wong Z, Jeffreys AJ. Clustering of hypervariable minisatellites in the proterminal regions of human autosomes. Genomics. 1988 Nov;3(4):352–360. [PubMed]
  • Scott AF, Phillips JA, 3rd, Migeon BR. DNA restriction endonuclease analysis for localization of human beta- and delta-globin genes on chromosome 11. Proc Natl Acad Sci U S A. 1979 Sep;76(9):4563–4565. [PMC free article] [PubMed]
  • Shibata DK, Arnheim N, Martin WJ. Detection of human papilloma virus in paraffin-embedded tissue using the polymerase chain reaction. J Exp Med. 1988 Jan 1;167(1):225–230. [PMC free article] [PubMed]
  • Smeets HJ, Brunner HG, Ropers HH, Wieringa B. Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy. Hum Genet. 1989 Oct;83(3):245–251. [PubMed]
  • Tanzi RE, Haines JL, Watkins PC, Stewart GD, Wallace MR, Hallewell R, Wong C, Wexler NS, Conneally PM, Gusella JF. Genetic linkage map of human chromosome 21. Genomics. 1988 Aug;3(2):129–136. [PubMed]
  • Tautz D. Hypervariability of simple sequences as a general source for polymorphic DNA markers. Nucleic Acids Res. 1989 Aug 25;17(16):6463–6471. [PMC free article] [PubMed]
  • van Tuinen P, Rich DC, Summers KM, Ledbetter DH. Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1. Genomics. 1987 Dec;1(4):374–381. [PubMed]
  • Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet. 1989 Mar;44(3):388–396. [PMC free article] [PubMed]
  • Willard HF, Durfy SJ, Mahtani MM, Dorkins H, Davies KE, Williams BR. Regional localization of the TIMP gene on the human X chromosome. Extension of a conserved synteny and linkage group on proximal Xp. Hum Genet. 1989 Feb;81(3):234–238. [PubMed]
  • Willard HF, Waye JS, Skolnick MH, Schwartz CE, Powers VE, England SB. Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes: implications for development of centromere-based genetic linkage maps. Proc Natl Acad Sci U S A. 1986 Aug;83(15):5611–5615. [PMC free article] [PubMed]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

Formats:

Related citations in PubMed

See reviews...See all...

Cited by other articles in PMC

See all...

Links

  • MedGen
    MedGen
    Related information in MedGen
  • Nucleotide
    Nucleotide
    Published Nucleotide sequences
  • PubMed
    PubMed
    PubMed citations for these articles

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...