Objective: To investigate whether the newly described G1502 to A1502 mutation in exon 3 of the LH beta-subunit gene, causing the amino acid substitution of Ser102 for Gly102, is related to female infertility.
Design: Screening of fertile and infertile women for the G1502 to A1502 mutation in the LH beta-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 beta-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 beta-subunit gene may be implicated in female infertility, possibly endometriosis-associated infertility in some women.