Random genetic drift determines the level of mutant mtDNA in human primary oocytes

被引:121
作者
Brown, DT
Samuels, DC
Michael, EM
Turnbull, DM
Chinnery, PF [1 ]
机构
[1] Newcastle Univ, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England
[2] Newcastle Univ, Dept Math, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England
[3] Newcastle Univ, Dept Obstet & Gynaecol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England
基金
英国惠康基金;
关键词
D O I
10.1086/318190
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We measured the proportion of mutant mtDNA (mutation load) in 82 primary oocytes from a woman who harbored the A3243G mtDNA mutation. The frequency distribution of mutation load indicates that random drift is the principal mechanism that determines the level of mutant mtDNA within individual oocytes.
引用
收藏
页码:533 / 536
页数:4
相关论文
共 26 条
  • [1] A QUANTITATIVE AND CYTOLOGICAL STUDY OF GERM CELLS IN HUMAN OVARIES
    BAKER, TG
    [J]. PROCEEDINGS OF THE ROYAL SOCIETY SERIES B-BIOLOGICAL SCIENCES, 1963, 158 (972): : 417 - +
  • [2] Bendall KE, 1996, AM J HUM GENET, V59, P1276
  • [3] Skewed segregation of the mtDNA nt 8993 (T->G) mutation in human oocytes
    Blok, RB
    Gook, DA
    Thorburn, DR
    Dahl, HHM
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 60 (06) : 1495 - 1501
  • [4] MELAS and MERRF - The relationship between maternal mutation load and the frequency of clinically affected offspring
    Chinnery, PE
    Howell, N
    Lightowlers, RN
    Turnbull, DM
    [J]. BRAIN, 1998, 121 : 1889 - 1894
  • [5] Chinnery PF, 2000, ANN NEUROL, V48, P188, DOI 10.1002/1531-8249(200008)48:2<188::AID-ANA8>3.3.CO
  • [6] 2-G
  • [7] Molecular pathology of MELAS and MERRF - The relationship between mutation load and clinical phenotypes
    Chinnery, PF
    Howell, N
    Lightowlers, RN
    Turnbull, DM
    [J]. BRAIN, 1997, 120 : 1713 - 1721
  • [8] Chinnery PF, 2000, ANN NEUROL, V47, P381, DOI 10.1002/1531-8249(200003)47:3<381::AID-ANA17>3.3.CO
  • [9] 2-U
  • [10] The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?
    Chinnery, PF
    Thorburn, DR
    Samuels, DC
    White, SL
    Dahl, HHM
    Turnbull, DM
    Lightowlers, RN
    Howell, N
    [J]. TRENDS IN GENETICS, 2000, 16 (11) : 500 - 505