Mutational analysis of BMP15 and GDF9 as candidate genes for premature ovarian failure

被引:77
作者
Chand, Ashwini L.
Ponnampalam, Anna P.
Harris, Sarah E.
Winship, Ingrid M.
Shelling, Andrew N.
机构
[1] Univ Auckland, Dept Obstet & Gynaecol, Fac Med & Hlth Sci, Auckland, New Zealand
[2] Univ Auckland, Dept Mol Med & Pathol, Fac Med & Hlth Sci, Auckland, New Zealand
关键词
D O I
10.1016/j.fertnstert.2006.02.107
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
Mutational screening of the bone morphogenetic protein 15 (BMP15) and growth differentiation factor 9 (GDF9) genes in a population with premature ovarian failure (POF) identified no new mutations. However, three single nucleotide polymorphisms in the BMP15 gene, two in the 5' untranslated region (31T > G and 71C > G) and another in exon 1 (387G > A), were found to be common in both POF and control groups.
引用
收藏
页码:1009 / 1012
页数:4
相关论文
共 46 条
[1]   Human growth differentiation factor 9 (GDF-9) and its novel homolog GDF-9B are expressed in oocytes during early folliculogenesis [J].
Aaltonen, J ;
Laitinen, MP ;
Vuojolainen, K ;
Jaatinen, R ;
Horelli-Kuitunen, N ;
Seppä, L ;
Louhio, H ;
Tuuri, T ;
Sjöberg, J ;
Bützow, R ;
Hovatta, O ;
Dale, L ;
Ritvos, O .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1999, 84 (08) :2744-2750
[2]   MUTATION IN THE FOLLICLE-STIMULATING-HORMONE RECEPTOR GENE CAUSES HEREDITARY HYPERGONADOTROPIC OVARIAN FAILURE [J].
AITTOMAKI, K ;
LUCENA, JLD ;
PAKARINEN, P ;
SISTONEN, P ;
TAPANAINEN, J ;
GROMOLL, J ;
KASKIKARI, R ;
SANKILA, EM ;
LEHVASLAIHO, H ;
ENGEL, AR ;
NIESCHLAG, E ;
HUHTANIEMI, I ;
DELACHAPELLE, A .
CELL, 1995, 82 (06) :959-968
[3]   A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor [J].
Beau, I ;
Touraine, P ;
Meduri, G ;
Gougeon, A ;
Desroches, A ;
Matuchansky, C ;
Milgrom, E ;
Kuttenn, F ;
Misrahi, W .
JOURNAL OF CLINICAL INVESTIGATION, 1998, 102 (07) :1352-1359
[4]   A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure:: Evidence for conserved function in oogenesis and implications for human sterility [J].
Bione, S ;
Sala, C ;
Manzini, C ;
Arrigo, G ;
Zuffardi, O ;
Banfi, S ;
Borsani, G ;
Jonveaux, P ;
Philippe, C ;
Zuccotti, M ;
Ballabio, A ;
Toniolo, D .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (03) :533-541
[5]   FRAGILE-X PREMUTATIONS IN FAMILIAL PREMATURE OVARIAN FAILURE [J].
CONWAY, GS ;
HETTIARACHCHI, S ;
MURRAY, A ;
JACOBS, PA .
LANCET, 1995, 346 (8970) :309-310
[6]  
COULAM CB, 1986, OBSTET GYNECOL, V67, P604
[7]   Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene [J].
Di Pasquale, E ;
Beck-Peccoz, P ;
Persani, L .
AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 75 (01) :106-111
[8]   Mutational analysis of the mature peptide region of inhibin genes in Indian women with ovarian failure [J].
Dixit, H ;
Deendayal, M ;
Singh, L .
HUMAN REPRODUCTION, 2004, 19 (08) :1760-1764
[9]   Growth differentiation factor-9 is required during early ovarian folliculogenesis [J].
Dong, JW ;
Albertini, DF ;
Nishimori, K ;
Kumar, TR ;
Lu, NF ;
Matzuk, MM .
NATURE, 1996, 383 (6600) :531-535
[10]  
DUBE JY, 1987, J ANDROL, V8, P182