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체외수정시술시 난포자극호르몬 수용체 유전자 다형성이 과배란유도 및 임신 결과에 미치는 영향
윤지성,최영민,임경실,허창영,강영제,정재훈,이원돈,임진호,황규리,지병철,구승엽,서창석,김석현,김정구,문신용,Yoon, Ji-Sung,Choi, Young-Min,Lim, Kyung-Sil,Hur, Chang-Young,Kang, Young-Je,Jung, Jae-Hoon,Lee, Won-Don,Lim, Jin-Ho,Hwang, Kyu-Ri,Jee, Byun 대한생식의학회 2004 Clinical and Experimental Reproductive Medicine Vol.31 No.2
Objective: To investigate the association of FSH receptor (FSHR) polymorphism at position 680 with outcomes of controlled ovarian hyper-stimulation for IVF-ET in Korean women. Design: Genetic polymorphism analysis. Materials and Methods: The FSHR polymorphism was analyzed by PCR-RFLP in 172 ovulatory women below the age of 40 year. Patients with polycystic ovary syndrome, endometriosis, or previous history of ovarian surgery were excluded. Results: Genotype distribution was 41.9% for the Asn/Asn, 47.7% for the Asn/Ser, and 10.5% for the Ser/Ser FSHR genotype group. There was no difference in age of subjects and infertility diagnosis between genotype groups. When the patients were grouped according to their FSHR genotype, the basal levels of FSH (day 3) were significantly different among the three groups ($6.0{\pm}0.3\;IU/L$ (mean $\pm$ SEM), $5.8{\pm}0.3\;IU/L$, and $8.6{\pm}1.2\;IU/L$ for the Asn/Asn, Asn/Ser, and Ser/Ser groups, respectively, p=0.002). The Ser/Ser group showed a higher total doses of gonadotropins required to achieve ovulation induction, and a lower serum estradiol levels at the time of hCG administration compared with other two groups, but the differences were of no statistical significance. The numbers of oocytes retrieved were significantly different among the three groups ($8.6{\pm}0.8$, $9.9{\pm}0.6$, and $6.3{\pm}0.9$, for the Asn/Asn, Asn/Ser, and Ser/Ser groups, respectively, p=0.049). Clinical pregnancy rates were 42.4%, 25.9%, and 29.4% for the Asn/Asn, Asn/Ser, and Ser/Ser groups, respectively. Conclusion: Homozygous Ser/Ser genotype of FSHR polymorphism at position 680 was associated with decreased ovarian response to gonadotropin stimulation for IVF-ET.
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한국인 혈우병 A 환자에서 PCR을 이용한 Factor 8 유전자의 Inversion 진단 및 보인자 진단
이경훈 ( Gyoung Hoon Lee ),이미란 ( Mi Ran Lee ),박성효 ( Sung Hyo Park ),최영민 ( Young Min Choi ),유기영 ( Steve K. Yoo ),민응기 ( Eung Gi Min ),황도영 ( Do Yeong Hwang ),최진 ( Jin Choe ),전종관 ( Jong Kwan Jun ),지병철 ( Byun 대한산부인과학회 2007 Obstetrics & Gynecology Science Vol.50 No.7
목적: 한국인 혈우병 A 환자에서 PCR 방법을 사용하여 intron 22 내 inversion을 진단하고, 이를 보인자 진단에 적용하고자 하였다. 연구방법: 130명의 서로 연관이 없는 한국인 혈우병 A 환자와 그 가계 구성원들을 대상으로 하여 intron 22에서의 inversion 여부를 조사하였다. 결과: PCR을 이용한 intron 22에서의 역위 진단 결과, 대상 혈우병 A 환자 130명 중 39명 (30%)에서 inversion이 발견되었다. 중증 혈우병 A 환자의 경우 inversion 빈도는 35% (39/113)였다. 여성 26 명을 대상으로 inversion 여부를 조사한 결과, 22명이 보인자로 진단되었다. 그리고 실제 임상에서 환자 및 그 가족들을 대상으로 inversion 여부를 진단함에 있어서 안정적이고 확실한 진단을 얻기 위한 실험 과정을 고안하여 사용하였다. 결론: 한국인 혈우병 A 환자에서의 intron 22 inversion 분석에 PCR을 이용한 분자유전학적 진단 방법은 intron 22 inversion 유무 판정 및 보인자 진단에 매우 유용하고 효과적임을 확인하였다. Objective: To establish PCR (polymerase chain reaction) method for detecting factor VIII gene inversion (intron 22) causing hemophilia A, and to apply it to carrier detection of hemophilia A. Design: A laboratory analysis Materials and Methods: An inversion pattern of the factor VIII gene was analyzed in 130 unrelated Korean patients with hemophilia A and 26 female subjects using PCR. Results: PCR analysis of the factor VIII gene for intron 22 inversion revealed that 91 patients (70%) were negative for the inversion, yielding 12 kb band by PQ primer. And all the other 39 (30%) patients who showed no amplification by PQ primer were positive for the inversion, yielding 11kb band by AQ primer. Among 113 patients with severe hemophilia A, 39 (35%) patients were positive for the inversion. Carrier detection for intron 22 inversion in 26 female subjects was performed, and revealed that 22 cases were carriers and 4 cases were normal female. Conclusion: This result suggests that PCR analysis of the inversion within the factor VIII gene is useful in the carrier detection of hemophilia A as well as in identifying hemophilia A patients with intron 22 inversion, in the Korean population.
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