| 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 |
Related Documents
:
|
16873366 - (cag)*(ctg) repeats associated with neurodegenerative diseases are stable in the escher... 9158156 - Estimating y chromosome specific microsatellite mutation frequencies using deep rooting... 7881406 - Dna haplotype analysis of huntington disease reveals clues to the origins and mechanism... 9852676 - Further evidence for a major ancient mutation underlying myotonic dystrophy from linkag... 18188646 - A new 4016-marker radiation hybrid map for porcine-human genome analysis. 7828416 - Therapy-related acute myeloid leukaemia following immunosuppression with azathioprine f... |
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. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| 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
Previous Document: Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' int...
Next Document: Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis ...