1997 Fiscal Year Final Research Report Summary
The frequencies of mutations in the beta-subunit of LH in fertile and infertile patients in Japan
| Project/Area Number |
07671835
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Obstetrics and gynecology
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| Research Institution | Osaka Medical College |
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Principal Investigator |
OKUDA Kiyoji Osaka Medical College, 医学部, 講師 (90131325)
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| Co-Investigator(Kenkyū-buntansha) |
YAMADA Takashi Osaka Medical College, 医学部, 専攻医
IMOTO Hirosumi Osaka Medical College, 医学部, 専攻医
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| Project Period (FY) |
1995 – 1997
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| Keywords | LH beta subunit / mutation / variant LH / RFLP / bioassay / frequency / PCR |
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| Research Abstract |
A variant LH with 2 mutalions in the LHbeta gene was reported, which was undetectable using specific monoclonal antibbdies. To evaluate the clinical significance of the anomalous LH variant, we analyzed the prevalence of the mutant of the LHbeta-subunit in Japan. One hundred and six infertile female patients (group I), of whom 50 have ovulatory cycles (group Ia) and 56 have ovulatory disturbances (group Ib), 113 patients with multiple normal courses of pregnancy (group II), and 119 randomly selected males patients who consulted our hospital (group III) were studied. DNA was extracted from peripheral blood leukocytes and restriction fragment length polymorphism (RFLP) analysis was carried out to screen for mutations of the LHbeta gene amplified by PCR.The serum concentrations of LH were measured by in an vitro bioassay (LH-Bio) and immunoassay using SPAC (LH-SPAC) and IMX (LH-IMX) kits. There were no significant differences in the frequencies of homozygote and heterozygotes for the mutant LHbeta gene among the 3 groups (0.9% and 10.4% in group I, 0.9% and 8.8% in group II and 1.7% and 8.4% in group III, respectively). The frequency of heterozygosity was identical between group Ia (10.0%) and group Ib (10.7%). The biological activity of LH in the patients with variant LH was higher than it in patients with wild LH, however, a common phenotype due to these mutations has not been detected so far in 4 homozygous patients or 31 heterozygous patients. The ratios of LH-SPAC/LH-IMX were classified into 3 groups according to the genotypes of the LHbeta gene. This mutant is in 8.4%-10.4% of the Japanese population, but it does not have a great influence upon ovulation and reproductive function. However, we must keep in mind the presence of this anomalous LH when estimating the LH value and further study is needed on the role of anomalous LH in reproductive function.
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