Results
| PMID | 9457942 |
| Gene Name | LHB |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | G1502A ->G102S |
| Population size | 264 |
| Population details | 264 (212 fertile, 40 infertile women with menstrual disorders, polycystic ovary syndrome, and endometriosis, 12 women with idiopathic infertility) |
| Sex | Female |
| Infertility type | Female infertility, endometriosis-associated infertility |
| Other associated phenotypes |
Menstrual disorders, polycystic ovary syndrome, and endometriosis |
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Fertil Steril. 1998 Jan;69(1):102-6. Liao, W X| Roy, A C| Chan, C| Arulkumaran, S| Ratnam, S S Department 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. Mesh Terms: Adult| Amino Acid Sequence| Base Sequence| DNA/genetics| Endometriosis/blood/genetics| Exons| Female| Genetic Testing| *Genetic Variation| Heterozygote| Humans| Infertility, Female/*blood/*genetics| Luteinizing Hormone/*blood/*genetics| Menst |
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