Re: Михаилу из Иерусалима, Биологу, Случайному


Автор сообщения: Случайный
Дата и время сообщения: 16 July 2008 at 20:38:40:

В ответ на сообщение: Re: Михаилу из Иерусалима, Биологу, Случайному

Метод обсчета (кажется ссылка уже приводилась) Wilson IJ, Balding DJ (1998) Genealogical inference from microsatellite data. Genetics 150:499–510
(http://www.genetics.org/cgi/reprint/150/1/499)

Скорость мутаций опрделена экспериментально при сравнении отец-сын.
Kayser M, Roewer L, Hedman M, Henke L, Henke J, Brauer
S, Kruger C, Krawczak M, Nagy M, Dobosz T, Szibor R, de
Knijff P, Stoneking M, Sajantila A (2000) Characteristics and
frequency of germline mutations at microsatellite loci from
the human Y chromosome, as revealed by direct observation
in father/son pairs. Am J Hum Genet 66:1580–1588

(http://www.sciencedirect.com/science?_ob=MImg&_imagekey=B8JDD-4RDPT5C-F-6&_cdi=43612&_user=10&_coverDate=05%2F31%2F2000&_sk=%23TOC%2343612%232000%23999339994%23677398%23FLA%23display%23Volume_66,_Issue_5,_Pages_i-ii,_1473-1728_(May_2000)%23tagged%23Volume%23first%3D66%23Issue%23first%3D5%23date%23(May_2000)%23&view=c&_gw=y&wchp=dGLbVtz-zSkWA&md5=5649646592e7af720aec58612a434f04&ie=/sdarticle.pdf)

Вот абстракт.

A number of applications of analysis of human Y-chromosome microsatellite loci to human evolution and forensic science require reliable estimates of the mutation rate and knowledge of the mutational mechanism. We therefore screened a total of 4,999 meioses from father/son pairs with confirmed paternity (probability greater-or-equal, slanted99.9%) at 15 Y-chromosomal microsatellite loci and identified 14 mutations. The locus-specific mutation-rate estimates were 0–8.58×10−3, and the average mutation rate estimates were 3.17×10−3 (95% confidence interval [CI] 1.89–4.94×10−3) across 8 tetranucleotide microsatellites and 2.80×10−3 (95% CI 1.72–4.27×10−3) across all 15 Y-chromosomal microsatellites studied. Our data show a mutational bias toward length increase, on the basis of observation of more repeat gains than losses (10:4). The data are in almost complete agreement with the stepwise-mutation model, with 13 single-repeat changes and 1 double-repeat change. Sequence analysis revealed that all mutations occurred in uninterrupted homogenous arrays of greater-or-equal, slanted11 repeats. We conclude that mutation rates and characteristics of human Y-chromosomal microsatellites are consistent with those of autosomal microsatellites. This indicates that the general mutational mechanism of microsatellites is independent of recombination.


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