title: Screening of the galactose-1-phosphate uridyltransferase gene in Indian women with ovarian failure.
abstract: The present study was aimed at mutational screening of the gene coding for galactose-1-phosphate uridyltransferase in females with premature ovarian failure within an Indian population. A case-control-based study approach was used. It included females with premature ovarian failure (n = 108), primary amenorrhoea (n = 37) and secondary amenorrhoea (n = 9), and a control group of 136 women with a normal ovarian pattern. Gene sequencing analysis for the presence of mutations in the promoter and the coding regions of GALT has shown the absence of any mutation. A hexanucleotide deletion was found in the third intronic region of GALT in both cases and controls. These data support the hypothesis that there is no significant association between GALT mutations and ovarian failure, and hence the present authors conclude that there is no relationship between ovarian failure and GALT polymorphisms in Indian women.
authors.affiliation: Centre for Cellular and Molecular Biology, Uppal Road, Hyderabad 500007, India.
authors.forename: K Anil
authors.initials: KA
authors.lastname: Kumar
authors.forename: K Lakshmi
authors.initials: KL
authors.lastname: Rao
authors.forename: Suryanarayana V
authors.initials: SV
authors.lastname: Vedula
authors.forename: M K
authors.initials: MK
authors.lastname: Kanakavalli
authors.forename: Padmalatha V
authors.initials: PV
authors.lastname: Vaddamani
authors.forename: Mamta
authors.initials: M
authors.lastname: Deendayal
authors.forename: Nalini
authors.initials: N
authors.lastname: Gupta
authors.forename: B N
authors.initials: BN
authors.lastname: Chakravarthy
authors.forename: Lalji
authors.initials: L
authors.lastname: Singh
mesh_terms: D000328:Adult; D000367:Age Factors; D000568:Amenorrhea / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D004247:DNA / Q000737:chemistry; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D017353:Gene Deletion; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007194:India; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D011401:Promoter Regions, Genetic; D017422:Sequence Analysis, DNA; D013696:Temperature; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
chemical_list: D017931:DNA Primers; D004247:DNA; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase