Literature DB >> 20701905

Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency.

Zhi-Bin Tong1, Shannon D Sullivan, Lindsey M Lawless, Vien Vanderhoof, Keith Zachman, Lawrence M Nelson.   

Abstract

The study objective was to determine if mutations in mitochondrial DNA polymerase gamma (POLG) are associated with spontaneous 46,XX primary ovarian insufficiency (sPOI) using restriction fragment length polymorphism analysis of genomic DNA. Of 201 women with 46,XX sPOI analyzed, we found only one case (0.5%, 95% confidence interval 0-3%) of heterozygosity for a POLG mutation, suggesting that this is not a common genetic etiology for this form of infertility. Published by Elsevier Inc.

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Year:  2010        PMID： 20701905      PMCID： PMC2992598          DOI： 10.1016/j.fertnstert.2010.06.049

Source DB:  PubMed          Journal:  Fertil Steril        ISSN： 0015-0282            Impact factor:   7.329


  19 in total

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Journal:  Nat Genet       Date:  2001-11       Impact factor: 38.330

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Authors:  N Steuerwald; J A Barritt; R Adler; H Malter; T Schimmel; J Cohen; C A Brenner
Journal:  Zygote       Date:  2000-08       Impact factor: 1.442

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Authors:  Eleonora Lamantea; Valeria Tiranti; Andreina Bordoni; Antonio Toscano; Francesco Bono; Serena Servidei; Alex Papadimitriou; Hans Spelbrink; Laura Silvestri; Giorgio Casari; Giacomo P Comi; Massimo Zeviani
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Review 8.  Premature ovarian failure in the fragile X syndrome.

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9.  The unfolding clinical spectrum of POLG mutations.

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10.  Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.

Authors:  G Van Goethem; J J Martin; B Dermaut; A Löfgren; A Wibail; D Ververken; P Tack; I Dehaene; M Van Zandijcke; M Moonen; C Ceuterick; P De Jonghe; C Van Broeckhoven
Journal:  Neuromuscul Disord       Date:  2003-02       Impact factor: 4.296
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Review 4.  Mitochondrial disease and endocrine dysfunction.

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7.  Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology.

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  7 in total

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