Document Detail


Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees.
MedLine Citation:
PMID:  9158156     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Recently, a set of highly polymorphic chromosome Y specific microsatellites became available for forensic, population genetic and evolutionary studies. However, the lack of a mutation frequency estimate for these loci prevents a reliable application. We therefore used seven chromosome Y tetranucleotide repeat loci to screen 42 males who are descendants from 12 'founding fathers' by a total number of 213 generations. As a result, we were able to estimate an average chromosome Y tetranucleotide mutation frequency of 0.20% (95% CIL 0.05-0.55). This closely matches the often cited Weber and Wong estimate of 0.21% for a set of autosomal tetranucleotide repeats. Expanding the set of microsatellites with two more loci (a tri- and a penta-nucleotide repeat locus) an average chromosome Y microsatellite mutation frequency of 0.21% (95% CIL 0.06-0.49) was found. These estimates suggest that microsatellites on the Y chromosome have mutation frequencies comparable to those on the autosomes. This supports the hypothesis that slippage-generated growth is the driving force behind the microsatellite variability.
Authors:
E Heyer; J Puymirat; P Dieltjes; E Bakker; P de Knijff
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Human molecular genetics     Volume:  6     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  1997 May 
Date Detail:
Created Date:  1997-07-21     Completed Date:  1997-07-21     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  799-803     Citation Subset:  IM    
Affiliation:
Laboratoire D'Athropologie Biologique CNRS UMR152, Musee de L'Homme, Paris, France.
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MeSH Terms
Descriptor/Qualifier:
Gene Frequency
Genetics, Population*
Humans
Male
Microsatellite Repeats*
Models, Genetic
Mutation*
Pedigree
Polymorphism, Genetic
Quebec
Y Chromosome*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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