Screening of the galactose-1-phosphate uridyltransferase gene in Indian women with ovarian failure

Reproductive BioMedicine Online

Volumn 11, Issue 4, 2005, Pages 444-448

  Anil Kumar, K ^a   Lakshmi Rao, K ^a   Vedula, Suryanarayana V ^a   Kanakavalli, M K ^a   Vaddamani, Padmalatha V ^a   Deendayal, Mamta ^b   Gupta, Nalini ^c   Chakravarthy, B N ^c   Singh, Lalji ^a  

^a CENTRE FOR CELLULAR AND MOLECULAR BIOLOGY   (India)

^b Infertility Institute and Research Center   (India)

^c Institute of Reproductive Medicine   (India)

Author keywords

Galactose 1 phosphate uridyltransferase; Mutation; Ovarian failure

Indexed keywords

GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; NUCLEOTIDE;

ADULT; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; DATA ANALYSIS; ENZYME ANALYSIS; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC POLYMORPHISM; HUMAN; INDIA; INTRON; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; POPULATION RESEARCH; PREMATURE OVARIAN FAILURE; PRIMARY AMENORRHEA; PROMOTER REGION; SECONDARY AMENORRHEA;

EID: 28844467658     PISSN: 14726483     EISSN: None     Source Type: Journal    
DOI: 10.1016/s1472-6483(10)61137-6     Document Type: Article

References (30)

1. Aittomaki K, Lucena JLD, Pakarinen P et al. 1995 Mutation in the follicle stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 82, 959-968.
2. Carr BR, Bradshaw KD 1998 Disorders of the ovary and female reproductive tract. In: Isselbacher K, Martin W, Kasper F (eds) Harrison's Principles of Internal Medicine, McGraw-Hill, New York, USA 2097-2162.
3. Chen YT, Mattison DR, Feigenbaum L et al. 1981 Reduction in oocyte number following prenatal exposure to a diet high in galactose. Science 214, 1145-1147.
4. Coulam CB, Stringfellow S, Hoefnagel D 1983 Evidence for a genetic factor in the etiology of premature ovarian failure. Fertility and Sterility 40, 693-695.
5. Cramer DW, Hornstein MD, Ng WG, Barbieri RL 1996 Endometriosis associated with the N314D mutation of galactose-1-phosphate uridyl transferase (GALT). Molecular Human Reproduction 2, 149-152.
6. Cramer DW, Bernard LH, Robert LB, Won GN 1989 Galactose-1-phosphate uridyl transferase activity associated with age at menopause and reproductive history. Fertility and Sterility 51, 609-615.
7. Cramer DW, Ravnikar VA, Craighill M et al. 1987 Mullerian aplasia associated with maternal deficiency of galactose-1-phosphate uridyl transferase. Fertility and Sterility 47, 930-934.
8. Daude N, Lestage J, Reichardt JK, Petry KG 1996 Expression of galactose-1-phosphate uridyltransferase in the anterior pituitary of rat during the estrus cycle. Neuroendocrinology 64, 42-48.
9. Davis CJ, Davison RM, Payne NN et al. 2000 Female sex preponderance for idiopathic familial premature ovarian failure suggests an X chromosome defect: opinion. Human Reproduction 15, 2418-2422.
10. Dixit H, Deendayal M, Singh L 2004 Mutational analysis of the mature peptide region of inhibin genes in Indian women with ovarian failure. Human Reproduction 19, 1760-1764.
11. Elsas LJ, Langley S, Steele E et al. 1995 Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. American Journal of Human Genetics 56, 630-639.
12. Fraser IS, Russell P, Greco S, Robertson DM 1986 Resistant ovary syndrome and premature ovarian failure in young woman with galactosemia. Clinical Reproduction and Fertility 4, 133-138.
13. Greene DA, Lang HJ, Stevens MJ, Obrosova IG 1999 Evaluation of aldose reductase inhibitor vs sorbitol, dehydrogenase inhibitor on diabetes induced changes in retinal NAD (P)-redox status support for the role for aldose reductase but not sorbitol dehydrogenase in diabetic retinopathy. Investigative Ophthalmology and Visual Science 40, S607.
14. Guerrero NV, Singh RH, Manaturga A et al. 2000 Risk factors for premature ovarian failure in females with galactosemia. Journal of Pediatrics 137, 833-841.
15. Hadfield RM, Manek S, Nakago S et al. 1999 Absence of a relationship between endometriosis and the N314D polymorphism of galactose-1-phosphate uridyl transferase in a UK population. Molecular Human Reproduction 5, 990-993.
16. Harris SE, Chand AL, Winship IM et al. 2002 Identification of novel mutations in FOXL2 associated with premature ovarian failure. Molecular Human Reproduction 8, 729-733.
17. Kaufman FR, Xu YK, Ng WG, Donnell GN 1989 Gonadal function and ovarian galactose metabolism in classic galactosemia. Acta Endocrinologica 120, 129-133.
18. Kaufman FR, Kogut MD, Donnell GN et al. 1979 Ovarian failure in galactosemia. Lancet 8145, 737-738.
19. Leloir LF 1951 The enzymatic transformation of uridine diphosphate glucose into a galactose derivative. Archives of Biochemistry 33, 186-190.
20. Marozzi A, Porta C, Vegetti W et al. 2002 Mutation analysis of the inhibin alpha gene in a cohort of Italian women affected by ovarian failure. Human Reproduction 17, 1741-1745.
21. Meyer WR, Doyle MB, Grifo JA et al. 1992 Aldose reductase inhibition prevention prevents galactose-induced ovarian dysfunction in the Sprague-Dawely rat. American Journal of Obstetrics and Gynecology 167, 1837-1843.
22. Ng WG, Xu YK, Kaufman FR, Donnell GN 1989 Deficit of uridine diphosphate galactose in galactosemia. Journal of Inherited Metabolic Disease 12, 257-266.
23. Oliver IT 1961 Inhibitor studies on uridine diphosphoglucose pyrophosphorylase. Biochimica et Biophysica Acta 52, 75-81.
24. Segal S, Berry GT 1995 Disorders of galactose metabolism. In: Scriver C, Beauder A, Sly W et al. (eds) The Metabolic and Molecular Basis of Inherited Disease, 7th edn. McGraw-Hill, New York.
25. Shelling AN, Burton KA, Chand AL et al. 2000 Inhibin: a candidate gene for premature ovarian failure. Human Reproduction 15, 2644-2649.
26. Swartz WJ, Mattison DR 1988 Galactose inhibition of ovulation in mice. Fertility and Sterility 88, 522-526.
27. Vaskivuo TE, Tapanainen JS 2002 Apoptosis in the human ovary. Reproductive BioMedicine Online 6, 24-35.
28. Waggoner DD, Buist NR, Donnell GN 1990 Long-term prognosis in galactosaemia: results of a survey of 350 cases. Journal of Inherited Metabolic Disease 13, 802-818.
29. Welt CK, Smith PC, Taylor AE 2004 Evidence of early ovarian aging in fragile X premutation carriers. Journal of Clinical Endocrinology and Metabolism 89, 4569-4574.
30. Xu YK, Ng WG, Kaufman FR et al. 1989 Galactose metabolism in human ovarian tissue. Pediatric Research 25, 151-155.