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

International Journal of Gynecology and Obstetrics

Volumn 105, Issue 3, 2009, Pages 265-266

  Prakash, Golla Jaya ^a   Ravi Kanth, Vishnubhotla Venkata ^a   Shelling, Andrew N ^b   Rozati, Roya ^c   Sujatha, Madireddi ^a  

^a OSMANIA UNIVERSITY   (India)

^b UNIVERSITY OF AUCKLAND   (New Zealand)

^c Center for Infertility Management   (India)

Author keywords

DNA sequencing; Finnish mutation; Follicle stimulating hormone receptor gene; Infertility; Premature ovarian failure; Restriction fragment length polymorphism

Indexed keywords

GENOMIC DNA;

ADULT; ARTICLE; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; EXON; FEMALE; FSHR GENE; GENE; GENE MUTATION; GLYCOSYLATION; HUMAN; INDIAN; KARYOTYPE 46,XX; LIGAND BINDING; MENOPAUSE; POLYMERASE CHAIN REACTION; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; REPRODUCTIVE HEALTH; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SIGNAL TRANSDUCTION;

EID: 67349260791     PISSN: 00207292     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijgo.2009.01.023     Document Type: Article

References (4)

1. Aittomaki K., Lucena J.L., Pakarinen P., Sistonen P., Tapanainen J., Gromoll J., et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 82 6 (1995) 959-968
2. Rannikko A., Pakarinen P., Manna P.R., Beau I., Misrahi M., Aittomaki K., et al. Functional characterization of the human FSH receptor with an inactivating Ala189Val mutation. Mol Hum Reprod 8 4 (2002) 311-317
3. Doherty E., Pakarinen P., Tiitinen A., Kiilavuori A., Huhtaniemi I., Forrest S., et al. A novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. J Clin Endocrinol Metab 87 3 (2002) 1151-1155
4. Davis D., Liu X., and Segaloff D.L. Identification of the sites of N-linked glycosylation on the follicle-stimulating hormone (FSH) receptor and assessment of their role in FSH receptor function. Mol Endocrinol 9 2 (1995) 159-170