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A Deletion Mutation in GDF9 in Sisters with Spontaneous DZ Twins

Published online by Cambridge University Press:  21 February 2012

Grant W. Montgomery*
Affiliation:
Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia. grantM@qimr.edu.au
Zhen Zhen Zhao
Affiliation:
Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia.
Anna J. Marsh
Affiliation:
Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia.
Renee Mayne
Affiliation:
Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia.
Susan A. Treloar
Affiliation:
Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia.
Michael James
Affiliation:
Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia.
Nicholas G. Martin
Affiliation:
Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia.
Dorret I. Boomsma
Affiliation:
Department of Biological Psychology, Free University,Amsterdam, the Netherlands.
David L. Duffy
Affiliation:
Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Australia.
*Corresponding
*Address for correspondence: Dr Grant Montgomery, Queensland Institute of Medical Research, 300 Herston Rd, Herston, Queensland 4006, Australia.

Abstract

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Aloss of function mutation in growth differentiation factor 9 (GDF9) in sheep causes increased ovulation rate and infertility in a dosage-sensitive manner. Spontaneous dizygotic (DZ) twinning in the human is under genetic control and women with a history of DZ twinning have an increased incidence of multiple follicle growth and multiple ovulation. We sequenced the GDF9 coding region in DNA samples from 20 women with DZ twins and identified a four-base pair deletion in GDF9 in two sisters with twins from one family. We screened a further 429 families and did not find the loss of function mutation in any other families. We genotyped eight single nucleotide polymorphisms across the GDF9 locus in 379 families with two sisters who have both given birth to spontaneous DZ twins (1527 individuals) and 226 triad families with mothers of twins and their parents (723 individuals). Using case control analysis and the transmission disequilibrium test we found no evidence for association between common variants in GDF9 and twinning in the families. We conclude that rare mutations in GDF9 may influence twinning, but twinning frequency is not associated with common variation in GDF9.

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