PMID: 2499779Jun 1, 1989Paper

Development of molecular approaches to estimating germinal mutation rates. I. Detection of insertion/deletion/rearrangement variants in the human genome

Mutation Research
H W MohrenweiserJ V Neel

Abstract

DNA from 130 individuals was studied with up to 18 (primarily cDNA) probes for the frequency of variants in this initial experiment to determine the feasibility of this approach to screening for germinal gene mutations. This approach, a modification of the usual restriction enzyme mapping strategy, focuses on the detection of insertion/deletion/rearrangement (I/D/R) variants, because the DNA is digested with only two restriction enzymes before transfer to membranes and hybridization with an extensive series of unrelated probes. Some 4000 noncontiguous, independent DNA fragments ("loci"), functional loci, pseudogenes or anonymous fragments, (a total of approximately 77,400 kb) were screened. 19 different classes and 31 copies of presumably I/D/R variants were detected while 4 different classes and 24 individuals exhibiting base substitution variants were observed. 18 of the 19 I/D/R classes were rare variants, that is, each were observed at a frequency, within this population, of less than 0.01; 3 of the base substitution classes existed at polymorphic frequencies and only 1 was a rare variant. 10 of the I/D/R classes, occurring in a total of 18 individuals, were detected with probes which are not known to be associated with rep...Continue Reading

References

Feb 1, 1978·Nucleic Acids Research·J T WilsonS M Weissman
Jun 1, 1987·Biochemical Society Transactions·A J Jeffreys
Oct 9, 1987·Science·E R FearonB Vogelstein
Jul 1, 1986·Mutation Research·W K CaveneeM F Hansen
Jul 1, 1986·Proceedings of the National Academy of Sciences of the United States of America·D R HiggsA G Falusi
Jun 1, 1987·Proceedings of the National Academy of Sciences of the United States of America·H YoussoufianH H Kazazian
Oct 1, 1987·Annals of Human Genetics·Z WongA J Jeffreys
May 1, 1987·Proceedings of the National Academy of Sciences of the United States of America·C R Ashman, R L Davidson
Mar 7, 1985·Nature·A J JeffreysS L Thein
May 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·G S BarshR E Gelinas
Jan 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·M C CarrollR R Porter
Jan 1, 1985·Human Genetics·S E AntonarakisS H Orkin
Jan 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·A M MichelsonS H Orkin
Mar 3, 1983·Nature·M S McCoyR A Weinberg
Jul 1, 1983·Analytical Biochemistry·A P Feinberg, B Vogelstein
May 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·W H RottmannE E Penhoet
Mar 1, 1982·Proceedings of the National Academy of Sciences of the United States of America·J BrennandC T Caskey

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Citations

Mar 7, 1998·American Journal of Human Genetics·J ByrneJ J Mulvihill
Jan 1, 1995·Environmental and Molecular Mutagenesis·J G Burkhart

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