Dynamic mutation loci: Allele distributions in different populations

被引:23
作者
Richards, RI
Crawford, J
Narahara, K
Mangelsdorf, M
Friend, K
Staples, A
Denton, M
Easteal, S
Hori, TA
Kondo, I
Jenkins, T
Goldman, A
Panich, V
Ferakova, E
Sutherland, GR
机构
[1] UNIV ADELAIDE, DEPT GENET, ADELAIDE, SA 5000, AUSTRALIA
[2] WOMENS & CHILDRENS HOSP, DEPT MED GENET & EPIDEMIOL, ADELAIDE, SA 5006, AUSTRALIA
[3] UNIV OTAGO, DEPT CHEM, DUNEDIN, NEW ZEALAND
[4] AUSTRALIAN NATL UNIV, JOHN CURTIN SCH MED RES, HUMAN GENET GRP, CANBERRA, ACT 2601, AUSTRALIA
[5] NATL INST RADIOL SCI, DIV GENET, CHIBA 260, JAPAN
[6] EHIME UNIV, SCH MED, LAB HYGEN, MATSUYAMA, EHIME 790, JAPAN
[7] S AFRICAN INST MED RES, SCH PATHOL, DEPT HUMAN GENET, JOHANNESBURG, SOUTH AFRICA
[8] UNIV WITWATERSRAND, JOHANNESBURG, SOUTH AFRICA
[9] PRINCE SONGKLA UNIV, FAC MED, DEPT PATHOL, SONGKHLA, THAILAND
[10] COMENIUS UNIV BRATISLAVA, DEPT MOL BIOL, BRATISLAVA, SLOVAKIA
关键词
D O I
10.1111/j.1469-1809.1996.tb00437.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
To assess the relative contributions of trans-acting factors (replication and repair functions) and cis-acting elements (repeat and flanking DNA composition) to the mechanism of trinucleotide repeat sequence mutation we have analysed the distribution of copy number polymorphisms at 12 loci associated with dynamic mutations in 15 populations of different ethnic origins. Genome wide instability of repeats in a particular population would be evidence of trans-acting factor instigation of the mutation process, whereas instability at a particular locus (perhaps even in several populations) would be evidence that the composition of the particular locus was the most significant factor contributing to mutation. The FRA16A locus is highly polymorphic in only the European population. Some other loci exhibit distinct distributions of alleles between different populations. Therefore sequences in the vicinity of the repeat-the cis component of a particular locus-appear(s) to be more important in the mutation mechanism than sporadic genome-wide instability induced by trans-acting factors such as the DNA mismatch repair enzymes.
引用
收藏
页码:391 / 400
页数:10
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