Two-Dimensional DNA Typing of Human Pedigrees

Spot Pattern Characterization and Segregation

E. MULLAART, A. M. VERWEST, A. D. BØRGLUM, A. G. UITTERLINDEN, JG G. TEMEERMAN, T. A. KRUSE, Jan Vijg

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

By two-dimensional (2-D) genome typing, i.e., electrophoretic separation of restriction enzyme-digested genomic DNA on the basis of both size and sequence in denaturing gradient gels followed by hybridization analysis, several hundred alleles (spots) can be analyzed in parallel, using a micro- or minisatellite core probe. We studied the segregation of 213 and 214 spots detected by microsatellite core probe (CAC)nand mini- satellite core probe 33.6, respectively, in two three-generation human pedigrees. Reproducibility of the spot patterns was such that particular spot variants could be scored in both pedigrees. Between 73 and 74% of the spots scored were variant and were transmitted in a Mendelian manner. Very little cosegregation among the 2-D spots themselves was observed, suggesting a random distribution over the genome. Several pairs of spots that appeared to contain both alleles from single loci were identified. The few spots detected by both probes (overlapping spots) showed different segregation patterns, indicating that each probe detects independent sets of genetically informative loci. These results provide a firm basis for using 2-D DNA typing to identify disease loci and for constructing a 2-D spot genetic linkage map of the human genome.

Original languageEnglish (US)
Pages (from-to)641-646
Number of pages6
JournalGenomics
Volume29
Issue number3
DOIs
StatePublished - Oct 1995
Externally publishedYes

Fingerprint

DNA Fingerprinting
Pedigree
Microsatellite Repeats
Alleles
Genome
Minisatellite Repeats
Genetic Linkage
Human Genome
Gels
DNA
Enzymes

ASJC Scopus subject areas

  • Genetics

Cite this

MULLAART, E., VERWEST, A. M., BØRGLUM, A. D., UITTERLINDEN, A. G., TEMEERMAN, JG. G., KRUSE, T. A., & Vijg, J. (1995). Two-Dimensional DNA Typing of Human Pedigrees: Spot Pattern Characterization and Segregation. Genomics, 29(3), 641-646. https://doi.org/10.1006/geno.1995.9955

Two-Dimensional DNA Typing of Human Pedigrees : Spot Pattern Characterization and Segregation. / MULLAART, E.; VERWEST, A. M.; BØRGLUM, A. D.; UITTERLINDEN, A. G.; TEMEERMAN, JG G.; KRUSE, T. A.; Vijg, Jan.

In: Genomics, Vol. 29, No. 3, 10.1995, p. 641-646.

Research output: Contribution to journalArticle

MULLAART, E, VERWEST, AM, BØRGLUM, AD, UITTERLINDEN, AG, TEMEERMAN, JGG, KRUSE, TA & Vijg, J 1995, 'Two-Dimensional DNA Typing of Human Pedigrees: Spot Pattern Characterization and Segregation', Genomics, vol. 29, no. 3, pp. 641-646. https://doi.org/10.1006/geno.1995.9955
MULLAART E, VERWEST AM, BØRGLUM AD, UITTERLINDEN AG, TEMEERMAN JGG, KRUSE TA et al. Two-Dimensional DNA Typing of Human Pedigrees: Spot Pattern Characterization and Segregation. Genomics. 1995 Oct;29(3):641-646. https://doi.org/10.1006/geno.1995.9955
MULLAART, E. ; VERWEST, A. M. ; BØRGLUM, A. D. ; UITTERLINDEN, A. G. ; TEMEERMAN, JG G. ; KRUSE, T. A. ; Vijg, Jan. / Two-Dimensional DNA Typing of Human Pedigrees : Spot Pattern Characterization and Segregation. In: Genomics. 1995 ; Vol. 29, No. 3. pp. 641-646.
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