Abstract
Objective: To investigate whether the newly described G1502 to A1502 mutation in exon 3 of the LH β-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 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.
Original language | English |
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Pages (from-to) | 102-106 |
Number of pages | 5 |
Journal | Fertility and Sterility |
Volume | 69 |
Issue number | 1 |
DOIs | |
Publication status | Published - 1998 |
Keywords
- Endometriosis
- Female infertility
- LH β-subunit
- Missense mutation
- PCR
- RFLP