A new molecular variant of luteinizing hormone associated with female infertility

Objective: To investigate whether the newly described G 1502 to A 1502 mutation in exon 3 of the LH β-subunit gene, causing the amino acid substitution of Ser 102 for Gly 102, is related to female infertility. Design: Screening of fertile and infertile women for the G 1502 to A 1502 mutation in the LH β-subunit gene. Setting: Clinics and laboratories of the National University Hospital obstetrics and gynecology department, Singapore. Patient(s): Two hundred twelve healthy fertile women; 40 infertile women with menstrual disorders, polycystic ovary syndrome, and endometriosis; and 12 women with idiopathic infertility. Intervention(s): Exon 3 of the LH β-subunit gene was analyzed using polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP), and PCR-mediated direct DNA sequencing. Main Outcome Measure(s): The PCR products of patients were analyzed by RFLP, and the results were compared with those of fertile controls. DNA sequencing radiographs were compared between two mutation-bearing patients and four controls. Result(s): The mutation was identified in only two infertile women with endometriosis; other women studied were found to be negative for this mutation. Conclusion(s): The missense mutation in the LH β-subunit gene may be implicated in female infertility, possibly endometriosis-associated infertility in some women.