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. Copyright (c) 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
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. Copyright (c) 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.