title: Mutational analysis of inhibin alpha gene revealed three novel variations in Indian women with premature ovarian failure.
abstract: OBJECTIVE
  To determine the prevalence of inhibin alpha gene variants in Indian women with premature ovarian failure.
  
  
  METHODS
  Mutational analysis of DNA from patients and control subjects.
  
  
  METHODS
  Clinical genetics and molecular cytogenetic laboratory.
  
  
  METHODS
  One hundred 46,XX women with premature ovarian failure and 50 healthy control subjects <40 years old.
  
  
  METHODS
  Blood samples were collected.
  
  
  METHODS
  Extraction of DNA from blood samples, amplification of inhibin alpha gene, restriction fragment length polymorphism (RFLP), and direct DNA sequencing.
  
  
  RESULTS
  The RFLP analysis revealed a 769G-->A missense inhibin alpha mutation. There were three inhibin alpha gene sequence variants that resulted in a change from 734 C-->A/Ala 245 Asp, 755 C-->A/Pro 252 His, and 777 C-->A/His 259 Gln by DNA sequencing.
  
  
  CONCLUSIONS
  Variants in the inhibin alpha gene are strongly associated with premature ovarian failure in Indian patients.
authors.affiliation: Department of Clinical Genetics, Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, Andhra Pradesh, India.
authors.forename: Golla Jaya
authors.initials: GJ
authors.lastname: Prakash
authors.forename: Vishnubhotla Venkata
authors.initials: VV
authors.lastname: Ravi Kanth
authors.forename: Andrew N
authors.initials: AN
authors.lastname: Shelling
authors.forename: Roya
authors.initials: R
authors.lastname: Rozati
authors.forename: Madireddi
authors.initials: M
authors.lastname: Sujatha