Abstract
We screened growth differentiation factor 9 coding regions for mutations in a Chinese sample of 100 women with premature ovarian failure and discovered four novel single-nucleotide polymorphisms: c.436C>T (p.Arg146Cys), c.588A>C (silent), c.712A>G (p.Thr238Ala), and c.1283G>C (p.Ser428Thr). Nonsynonymous single-nucleotide polymorphisms c.436C>T and c.1283G>C were also detected in the control population. The c.712A>G perturbation results in a missense mutation (p.Thr238Ala) and was not present in any of 96 controls. Substitution of the hydrophobic amino acid residue alanine for hydrophilic threonine may disrupt growth differentiation factor 9 function.
Publication types
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Comparative Study
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Alanine / genetics
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Amino Acid Substitution / genetics
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Asian People / genetics*
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Bone Morphogenetic Protein 15
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DNA Mutational Analysis / methods
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Female
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Growth Differentiation Factor 9
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Humans
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Intercellular Signaling Peptides and Proteins / genetics*
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Intercellular Signaling Peptides and Proteins / physiology
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Mutation*
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Polymorphism, Single Nucleotide / genetics
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Primary Ovarian Insufficiency / diagnosis
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Primary Ovarian Insufficiency / genetics*
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Threonine / genetics
Substances
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BMP15 protein, human
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Bone Morphogenetic Protein 15
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GDF9 protein, human
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Growth Differentiation Factor 9
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Intercellular Signaling Peptides and Proteins
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Threonine
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Alanine