Absence of 566C>T mutation in exon 7 of the FSHR gene in Indian women with premature ovarian failure

被引:8
作者
Prakash, Golla Jaya [1 ,2 ]
Kanth, Vishnubhotla Venkata Ravi [1 ,2 ]
Shelling, Andrew N. [3 ]
Rozati, Roya [4 ]
Sujatha, Madireddi [1 ,2 ]
机构
[1] Osmania Univ, Dept Clin Genet, Inst Genet, Hyderabad 500016, Andhra Pradesh, India
[2] Osmania Univ, Hosp Genet Dis, Hyderabad 500016, Andhra Pradesh, India
[3] Univ Auckland, Dept Obstet & Gynaecol, Auckland 1, New Zealand
[4] Ctr Infertil Management, Hyderabad, Andhra Pradesh, India
关键词
DNA sequencing; Finnish mutation; Follicle stimulating hormone receptor gene; Infertility; Premature ovarian failure; Restriction fragment length polymorphism; RECEPTOR;
D O I
10.1016/j.ijgo.2009.01.023
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
[No abstract available]
引用
收藏
页码:265 / 266
页数:2
相关论文
共 4 条
[1]   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
[2]   IDENTIFICATION OF THE SITES OF N-LINKED GLYCOSYLATION ON THE FOLLICLE-STIMULATING-HORMONE (FSH) RECEPTOR AND ASSESSMENT OF THEIR ROLE IN FSH RECEPTOR FUNCTION [J].
DAVIS, D ;
LIU, XB ;
SEGALOFF, DL .
MOLECULAR ENDOCRINOLOGY, 1995, 9 (02) :159-170
[3]   A novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure [J].
Doherty, E ;
Pakarinen, P ;
Tiitinen, A ;
Kiilavuori, A ;
Huhtaniemi, I ;
Forrest, S ;
Aittomäki, K .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2002, 87 (03) :1151-1155
[4]   Functional characterization of the human FSH receptor with an inactivating Ala189Val mutation [J].
Rannikko, A ;
Pakarinen, P ;
Manna, PR ;
Beau, I ;
Misrahi, M ;
Aittomäki, K ;
Huhtaniemi, I .
MOLECULAR HUMAN REPRODUCTION, 2002, 8 (04) :311-317