Korean J Fertil Steril.
2001 Jun;28(2):141-146.
The Analysis of SHP (Small Heterodimer Partner) Gene Mutation in Infertile Patients with Polycystic Ovary Syndrome (PCOS) in Korea
- Affiliations
-
- 1Laboratory of Genetics, Infertility Medical Center, CHA General Hospital College of Medicine, Pochon CHA University, Korea.
- 2Hormone Research Center, Chonnam National University, Korea.
- 3Infertility Medical Center, Pundang CHA General Hospital, Korea.
- 4Kangbuk Samsung Hospital, SungKyunKwan University School of Medicine, Korea.
Abstract
OBJECTIVE
We inversigated Small Heterodimer Partner (SHP) gene mutation in Korean Polycystic Ovarian Syndrome (PCOS) patients. SHP protein regulates the activity of nuclear receptors which regulate the cellular development and differentiation. Recently, the mutation of SHP gene was found in the obesity and diabetes patients in Japanese group, and suggested that its mutation may involved in pathogenic mechanism of PCOS.
METHODS
This study was performed in 20 PCOS patients and 20 normal women. The DNAs were extracted from the peripheral bloods, and amplified at each exon (1 and 2) of SHP gene by PCR method. Subsequently, each PCR product was digested with the restriction enzyme indicated below for studying restriction fragment length polymorphism (RFLP). After enzyme digestion, the results of RFLP were compared PCOS patients with control women to find any sequence variation.
RESULTS
We examined 9 regions of exon 1 with Msp I, Pvu II, Dde I and 3 regions of exon 2 with Pst I, Dde I. There is no heterozygous or homozygous mutation in patients and control women at these restriction sites.
CONCLUSION
The genetic analysis at our restriction sites in the SHP gene did not show any genetic variation in Korean PCOS patients. Our PCR-RFLP analysis was not covered the entire SHP gene (68 bp/ 1,006 bp), we need to further analysis of the entire SHP gene.
Keyword
MeSH Terms
-
Asian Continental Ancestry Group
Dichlorodiphenyl Dichloroethylene
Digestion
DNA
Exons
Female
Genetic Variation
Humans
Korea*
Obesity
Polycystic Ovary Syndrome*
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Receptors, Cytoplasmic and Nuclear
DNA
Dichlorodiphenyl Dichloroethylene
Receptors, Cytoplasmic and Nuclear
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