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A new molecular variant of luteinizing hormone associated with female infertility
1Department of Obstetrics and Gynecology, National University of Singapore, National University Hospital.
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.