Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype

被引:19
|
作者
Ojeda, Diego [1 ]
Lakhal, Besma [2 ]
Janneth Fonseca, Dora [1 ]
Braham, Rim [3 ]
Landolsi, Hanene [2 ]
Eliana Mateus, Heidi [1 ]
Martin Restrepo, Carlos [1 ]
Elghezal, Hatem [2 ]
Saad, Ali [2 ]
Laissue, Paul [1 ]
机构
[1] Univ Rosario, Unidad Genet, Escuela Med & Ciencias Salud, Bogota, Colombia
[2] Farhat Hached Univ Teaching Hosp, Dept Cytogenet & Reprod Biol, Sousse, Tunisia
[3] Farhat Hached Univ Teaching Hosp, Dept Endocrinol, Sousse, Tunisia
关键词
Premature ovarian failure (POF); CDKN1B; mutations; sequencing; HORMONE-RECEPTOR GENE; FOLLICULAR DEVELOPMENT; ACTIVATION; FOXO3A; MICE; SUPPRESSION; LOCUS; WOMEN; BMP15;
D O I
10.1016/j.fertnstert.2011.04.045
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
Earlier reports demonstrated a key role of Cdkn1b during mouse ovarian development. In this study, the sequencing analysis of the complete coding region of this gene in a panel of premature ovarian failure patients and control subjects reveals a novel mutation potentially related to the phenotype. ( Fertil Steril (R) 2011;95:2658-60. (C) 2011 by American Society for Reproductive Medicine.)
引用
收藏
页码:2658 / U711
页数:4
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