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Molecular Human Reproduction, Vol. 9, No. 3, 171-174, March 2003
© 2003 European Society of Human Reproduction and Embryology

Article

The N314D polymorphism of the GALT gene is not associated with congenital absence of the uterus and vagina

Submitted on July 29, 2002; resubmitted on November 7, 2002. accepted on November 26, 2002

S. Klipstein1,4, B. Bhagavath2, C. Topipat3, L. Sasur1, R.H. Reindollar1 and M.R. Gray1

1 Department of Obstetrics and Gynecology, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Room KS-322, Boston, MA 02215 and Harvard Medical School Boston, MA 02215 and 2 Department of Obstetrics and Gynecology, Medical College of Georgia, 1120 15th Street, Augusta, GA 30912, USA and 3 Department of Obstetrics and Gynecology, Jetanin Hospital, No. 5 Soi Chidlom, Ploenchit Road, Lumpini, Pathumwan, Bangkok, 10330, Thailand

4 To whom correspondence should be addressed. e-mail: sklipste{at}caregroup.harvard.edu

The aetiology of anomalous embryonic and fetal development of the female reproductive tract, ranging from common uterine abnormalities to the somewhat rare congenital absence of the uterus and vagina (CAUV), is unknown. Some have proposed that abnormal galactose metabolism might cause CAUV. An association between CAUV and the N314D allele of the galactose-1-phosphate uridyl transferase (GALT) gene has been proposed as aetiological. We tested this hypothesis further by performing a case–control molecular study analysing 32 patients with CAUV for the presence of the N314D allele. These patients were compared with 138 normal controls. No association between CAUV and the N314D polymorphism was found (P = 0.32). It is unlikely that either maternal or fetal GALT enzyme activity could affect paramesonephric duct development, because neither galactosaemic subjects nor their children have an increased incidence of uterine anomalies.

Key words: CAUV/galactosaemia/GALT/Mayer–Rokitansky–Küster–Hauser syndrome/N314D


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