Mutational analysis of inhibin alpha gene revealed three novel variations in Indian women with premature ovarian failure.
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.
Prakash
Golla Jaya
GJ
Department of Clinical Genetics, Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, Andhra Pradesh, India.
Ravi Kanth
Vishnubhotla Venkata
VV
Shelling
Andrew N
AN
Rozati
Roya
R
Sujatha
Madireddi
M