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

Autor: Murthy Kanakavalli, K Lakshmi Rao, Lalji Singh, Padmalatha V Vaddamani, Nalini J. Gupta, Suryanarayana V Vedula, Baidyanath Chakravarthy, K. Anil Kumar, Mamta Deendayal
Rok vydání: 2005
Předmět:
Adult
medicine.medical_specialty
Genotype
endocrine system diseases
DNA Mutational Analysis
Molecular Sequence Data
India
Physiology
Primary Ovarian Insufficiency
Biology
medicine.disease_cause
Polymerase Chain Reaction
DNA sequencing
Internal medicine
medicine
Humans
UTP-Hexose-1-Phosphate Uridylyltransferase
Coding region
Galactose—1-phosphate uridylyltransferase
Genetic Predisposition to Disease
Promoter Regions
Genetic
Amenorrhea
Gene
DNA Primers
Mutation
Polymorphism
Genetic
Base Sequence
Ovarian failure
Age Factors
Temperature
Obstetrics and Gynecology
DNA
Sequence Analysis
DNA
medicine.disease
Introns
female genital diseases and pregnancy complications
Premature ovarian failure
Endocrinology
Gene Expression Regulation
Reproductive Medicine
Case-Control Studies
Primary amenorrhoea
Female
Gene Deletion
Developmental Biology
Zdroj: Reproductive BioMedicine Online. 11:444-448
ISSN: 1472-6483
DOI: 10.1016/s1472-6483(10)61137-6
Popis: 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.
Databáze: OpenAIRE
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