Variable expression of the Fragile X Mental Retardation 1 (FMR1) gene in patients with premature ovarian failure syndrome is not dependent on number of (CGG)n triplets in exon 1 | Zendy

Julia Schuettler | Zendy; Zhongying Peng | Zendy; J. Zimmer | Zendy; HansPeter Sinn | Zendy; Cornelia von Hagens | Zendy; T. Strowitzki | Zendy; P. H. Vogt | Zendy

Open Access

Variable expression of the Fragile X Mental Retardation 1 (FMR1) gene in patients with premature ovarian failure syndrome is not dependent on number of (CGG)n triplets in exon 1

Author(s) -

Julia Schuettler,

Zhongying Peng,

J. Zimmer,

HansPeter Sinn,

Cornelia von Hagens,

T. Strowitzki,

P. H. Vogt

Publication year - 2011

Publication title -

human reproduction

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.446

H-Index - 226

eISSN - 1460-2350

pISSN - 0268-1161

DOI - 10.1093/humrep/der018

Subject(s) - premature ovarian failure , fragile x syndrome , fmr1 , exon , fragile x , genetics , gene , medicine , biology

Increased expression of the Fragile X Mental Retardation 1 (FMR1) gene in blood cells has been claimed to be associated with variable (CGG)(n) triplet numbers in the 5' untranslated region of this gene. Increased CGG triplet numbers, including that of the so-called premutation range (n= 55-200), were shown to have a risk of <26% to impair ovarian reserve leading to primary ovarian insufficiency and premature ovarian failure (POF).

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