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Hum. Reprod. Advance Access originally published online on April 13, 2006
Human Reproduction 2006 21(8):2041-2046; doi:10.1093/humrep/del107
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Mutational analysis of the betaglycan gene-coding region in susceptibility for ovarian failure

H. Dixit1, K.L. Rao1, V.V. Padmalatha1, M. Kanakavalli1, M. Deenadayal2, N. Gupta3, B.N. Chakrabarty3 and L. Singh1,4

1 Centre for Cellular and Molecular Biology 2 Infertility Institute and Research Centre, Hyderabad, Andhra Pradesh and 3 Institute of Reproductive Medicine, Kolkata, West Bengal, India

4 To whom correspondence should be addressed at: Centre for Cellular and Molecular Biology, Uppal road, Hyderabad, India. E-mail: lalji{at}ccmb.res.in

BACKGROUND: Elevation of FSH is frequently a consequence of impaired ovarian follicle growth. Down-regulation of the FSH levels by inhibins is mediated through its receptor betaglycan in the gonadotrophs. Understanding of germline status of the betaglycan gene (TGFBR3) is essential for ovarian failure pathophysiology. METHODS: Sequence analysis was performed for the coding region of TGFBR3 gene in a cohort of 196 ovarian failure cases that include 133 premature ovarian failure (POF) cases, 63 primary amenorrhoea (PA) cases compared with 200 controls. RESULTS: Forty-six variants including six novel exonic variants and 16 novel intronic variants were revealed. Two variants were missense: (i) p.Iso184Val in a control and (ii) p.Pro775Ser in a POF case. Genotypic distribution of three variants (c.382-81C>T, c.382-77T>C and c.1200G>A) was significantly different in the patients as compared with the controls. Five variants c.382-81C>T, c.382-77T>C, c.566-216G>A, c.1200G>A and c.2022T>C were chosen for haplotyping. The CCAAT haplotype was significantly higher in the patient population as compared with the controls (P = 0.00007). CONCLUSION: This study establishes the first mutational report of the TGFBR3 gene in correlation with ovarian failure. Significant diversity of genotype distribution and haplotype analysis suggested susceptibility of the TGFBR3 gene for ovarian failure aetiology.

Key words: betaglycan/mutation/ovarian failure


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