Mutational analysis of inhibin alpha gene revealed three novel variations in Indian women with premature ovarian failure

Fertil Steril. 2010 Jun;94(1):90-8. doi: 10.1016/j.fertnstert.2009.02.014. Epub 2009 Mar 26.

Abstract

Objective: To determine the prevalence of inhibin alpha gene variants in Indian women with premature ovarian failure.

Design: Mutational analysis of DNA from patients and control subjects.

Setting: Clinical genetics and molecular cytogenetic laboratory.

Patients(s): One hundred 46,XX women with premature ovarian failure and 50 healthy control subjects <40 years old.

Intervention(s): Blood samples were collected.

Main outcome measure(s): Extraction of DNA from blood samples, amplification of inhibin alpha gene, restriction fragment length polymorphism (RFLP), and direct DNA sequencing.

Result(s): 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.

Conclusion(s): Variants in the inhibin alpha gene are strongly associated with premature ovarian failure in Indian patients.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • DNA Mutational Analysis* / methods
  • Female
  • Genetic Variation / genetics*
  • Humans
  • India
  • Inhibins / genetics*
  • Molecular Sequence Data
  • Mutation, Missense / genetics*
  • Primary Ovarian Insufficiency / diagnosis*
  • Primary Ovarian Insufficiency / genetics*
  • Young Adult

Substances

  • inhibin-alpha subunit
  • Inhibins

Associated data

  • GENBANK/ACI28454
  • GENBANK/FJ210784