Amplification of DNA sequences in polar bodies from human oocytes for diagnosis of mitochondrial disease

被引：15
|
作者：
Briggs, DA
Power, NJ
Lamb, V
Rutherford, AJ
Gosden, RG
机构：
[1] Univ Leeds, Div Obstet & Gynaecol, Leeds, W Yorkshire, England
[2] Leeds Gen Infirm, Leeds, W Yorkshire, England
来源：
LANCET | 2000年 / 355卷 / 9214期
关键词：
D O I：
10.1016/S0140-6736(00)02171-1
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
When a preovulatory oocyte reinitiates meiosis, it sheds a cytoplasmic fragment containing mitochondria and redundant set of chromosomes. We have detected DNA sequences from both the mitochondrial and nuclear genomes in polar bodies from unfertilised human oocytes, demonstrating the feasibility of diagnosing mitochondrial diseases before conception.
引用
收藏
页码：1520 / 1521
页数：2
相关论文
共 50 条
  • [21] Mitochondrial DNA (mtDNA) deletions in human oocytes
    Barritt, JA
    Miller, BM
    VanTuyle, GC
    Matt, DW
    FERTILITY AND STERILITY, 1997, : P192 - P192
  • [22] Mitochondrial DNA sequences in prehistoric human remains from the Alps
    Di Benedetto, G
    Nasidze, IS
    Stenico, M
    Nigro, L
    Krings, M
    Lanzinger, M
    Vigilant, L
    Stoneking, M
    Pääbo, S
    Barbujani, G
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (09) : 669 - 677
  • [23] Mitochondrial DNA sequences in prehistoric human remains from the Alps
    Giulietta Di Benedetto
    Ivane S Nasidze
    Michele Stenico
    Lorendana Nigro
    Matthias Krings
    Michele Lanzinger
    Linda Vigilant
    Mark Stoneking
    Svant Pääbo
    Guido Barbujani
    European Journal of Human Genetics, 2000, 8 : 669 - 677
  • [24] Parthenogenetic activation of human oocytes as a model for polar bodies-PGD
    Paffoni, A.
    Paracchini, V.
    Ferrari, S.
    Restelli, L.
    Coviello, D. A.
    Scarduelli, C.
    Seia, M.
    Ragni, G.
    HUMAN REPRODUCTION, 2010, 25 : I329 - I329
  • [25] Complete molecular cytogenetic analysis of human oocytes and polar bodies.
    Fragouli, E.
    Wells, D.
    Thornhill, A.
    Faed, M.
    Harper, J.
    Delhanty, J.
    FERTILITY AND STERILITY, 2006, 86 : S85 - S85
  • [26] Mechanisms of maternal aneuploidy: FISH analysis of human oocytes and polar bodies
    Fragouli, E
    Conn, CM
    Cupisti, S
    Whaley, K
    Mills, JA
    Faed, MJW
    Delhanty, JDA
    GENETICS RESEARCH, 2003, 81 (03) : 230 - 230
  • [27] PREFERENTIAL AMPLIFICATION AND MOLECULAR CHARACTERIZATION OF JUNCTION SEQUENCES OF A PATHOGENETIC DELETION IN HUMAN MITOCHONDRIAL-DNA
    JOHNS, DR
    HURKO, O
    GENOMICS, 1989, 5 (03) : 623 - 628
  • [28] AMPLIFICATION OF MITOCHONDRIAL RIBOSOMAL-RNA SEQUENCES FROM PNEUMOCYSTIS-CARINII DNA OF RAT AND HUMAN-ORIGIN
    WAKEFIELD, AE
    PIXLEY, FJ
    BANERJI, S
    SINCLAIR, K
    MILLER, RF
    MOXON, ER
    HOPKIN, JM
    MOLECULAR AND BIOCHEMICAL PARASITOLOGY, 1990, 43 (01) : 69 - 76
  • [29] Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations
    Eunju Kang
    Jun Wu
    Nuria Marti Gutierrez
    Amy Koski
    Rebecca Tippner-Hedges
    Karen Agaronyan
    Aida Platero-Luengo
    Paloma Martinez-Redondo
    Hong Ma
    Yeonmi Lee
    Tomonari Hayama
    Crystal Van Dyken
    Xinjian Wang
    Shiyu Luo
    Riffat Ahmed
    Ying Li
    Dongmei Ji
    Refik Kayali
    Cengiz Cinnioglu
    Susan Olson
    Jeffrey Jensen
    David Battaglia
    David Lee
    Diana Wu
    Taosheng Huang
    Don P. Wolf
    Dmitry Temiakov
    Juan Carlos Izpisua Belmonte
    Paula Amato
    Shoukhrat Mitalipov
    Nature, 2016, 540 : 270 - 275
  • [30] Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations
    Kang, Eunju
    Wu, Jun
    Gutierrez, Nuria Marti
    Koski, Amy
    Tippner-Hedges, Rebecca
    Agaronyan, Karen
    Platero-Luengo, Aida
    Martinez-Redondo, Paloma
    Ma, Hong
    Lee, Yeonmi
    Hayama, Tomonari
    Van Dyken, Crystal
    Wang, Xinjian
    Luo, Shiyu
    Ahmed, Riffat
    Li, Ying
    Ji, Dongmei
    Kayali, Refik
    Cinnioglu, Cengiz
    Olson, Susan
    Jensen, Jeffrey
    Battaglia, David
    Lee, David
    Wu, Diana
    Huang, Taosheng
    Wolf, Don P.
    Temiakov, Dmitry
    Belmonte, Juan Carlos Izpisua
    Amato, Paula
    Mitalipov, Shoukhrat
    NATURE, 2016, 540 (7632) : 270 - +
12345