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DIG System을 이용한 후레자일 X 증후군 ( Fragile X Syndrome ) 과 근이영양증 ( DMD ) 의 진단
이숙환(Sook Hwan Lee),조성원(Sung Won Cho),한정희(Jung Hee Han),이교원(Kyo Won Lee),한종설,차광은(Kwang Eun Cha),한세열(Se Yul Han),계정웅(Chung Woong Kay),조세현(Se Hyun Cho),엄기붕(Ki Boong Oum),곽인평(In Pyung Kwak) 대한산부인과학회 1998 Obstetrics & Gynecology Science Vol.41 No.11
N/A The aim of this study was to develop a rapid and safe non-radioactive DIG DNA labeling and detection for Southern blot analysis for fragile X syndrome and Duchenne muscular dystrophy (DMD). Southern blot analysis is accurate test showing expression of the (CGG)n repeat and abnormal methylation pattern of CpG island in hagile X syndrome, and good confirmative secondary test in case of deletion in DMD. But in terms of test rapidity, these conventional radioactive Southern analysis may not be feasible for rapid screening of prenatal samples and at-risk populations to determine their status and to provide genetic counseling to their families. As an alternative radioactive Southern blotting, DIG DNA labeling and detection system does not require handling of radioactive material nor require learning any new technology. The complete procedure of labeling the DNA and hybridization to detection of the first visible signal can be compbsbed witbin 7 days. In addition, hybridization solutions containing labeled DNA can be reused several times after renewed denaturation.
이숙환(Sook Hwan Lee),윤태기(Tae Ki Yoon),차광열(Kwang Yul Cha),곽인평(In Pyung Kwak),김현주(Hyun Joo Kim),남윤성(Yoon Sung Nam) 대한산부인과학회 1998 Obstetrics & Gynecology Science Vol.41 No.12
Infertility, defined as 1 year of unprotected coitus without conception, affects approximately 10 to 15% for couples of reproductive age. Approximately 35% of these cases are attributable to male factor infertility. A major cause of male infertility is chromosome abnormality, such as 47 chromosomes with an XXY karyotype. Early surveys of infertile males showed that the incidence of major chromosome abnormality in infertile males in azoospermic patients. When patients are treated for male infertility, a chromosome analysis including a search for abnormality at the DNA level, should be performed. We have experienced a case of autosomal reciprocal translocation in azoospermic patient. So we report this case with a brief review of literatures.
반복적 시험관아기 배아이식 실패 환자에서 정맥내 면역글로블린요법
이숙환(Sook Hwan Lee),윤내영(Nae Young Youn),윤태기(Tae Ki Yoon),곽인평(In Pyung Kwak),이은정(Eun Jung Lee),최동희(Dong Hee Choi),한세열(Se Yul Han) 대한산부인과학회 2000 Obstetrics & Gynecology Science Vol.43 No.1
목적: 반복적인 시험관아기-배아이식 실패 환자에서 정맥내 면역글로블린의 효과를 보고자 하였다. 방법: 총 9예의 반복적인 배아이식 실패 환자에서 새로운 시험관아기 시술시 배아이식 직전에 정맥내면역글로블린을 500mg/kg 투여하였다. 결과: 단 1예에서 착상에 성공하였고, 1예는 화학적임신이었다. 시술중 정맥내면역글로블린의 특이한 부작용은 없었다. 결론: 정맥내면역글로블린요법은 반복적 배아이식 실패환자에서 유용한 방법으로 여겨지지 않으나, 향후 면역요법에 대한 지속적인 연구가 필요할 것으로 사료된다. Objective: The implantation failure after embryo-transfer (ET) is a major continuing problem in in vitro fertilization (IVF). This study was undertaken to determine the effectiveness of intravenous immunoglobulin for treatment of individuals experiencing repeated unexplained in vitro fertilization-embryo transfer (IVF-ET) failure. Methods: A total of nine consecutive infertile patients who failed to become pregnant after previous IVF-ET replacing at least three or more normal developed embryos each were included in our study. During the subsequent new IVF-ET cycle, each women received intravenous immunoglobulin 500㎎/㎏ before the embryo transfer. Results: Only one implantation occurred. There were no remarkable side effects. A specific effect of intravenous immunoglobulin for patients with repeated IVF-ET failure could not be demonstrated. Conclusion: High-dose intravenous immunoglobulin may not be useful for patients with repeated failure of embryo transfer.
이숙환(Sook Hwan Lee),윤태기(Tae Ki Yoon),차광열(Kwang Yul Cha),남윤성(Yoon Sung Nam),곽인평(In Pyung Kwak) 대한산부인과학회 1999 Obstetrics & Gynecology Science Vol.42 No.1
Prenature ovarian failure is a condition causing amenarrhea, hypoestrogenism, and elevated genadotropins in women younger than 40 years. A karyotype should be performed as part of basic laboratory evaluation for all patients with premature ovarian failure and prodromal premature ovarian failure. Development of a malignancy in a dysgenetic gonad is of major concern. The presence of a fragment of the Y chromosome is thought to be a key to the oncogenic potential of these gonads. The search for the testicular determining factor(TDF) has engendered much confusion about which part of the Y chromosome plays a role in malignancy. This was initially postulated to be the H- Y antigen. More recent data, however, localize the area near the centromere of the Y Chromosome, on the long arm(Yq). Malignant potential is clearly not linked to the testicular determining factor itself(SRY). This is a critical point in clinical medicine. Feilure to display SRY or a closely related sequence does not rule out the presence of the segment of the Y chromosome postulated to be associated with the development of malignancies. We have experienced a case of premature ovarian failure with chtomosomal abnormality involving Y chromosome fragment. So we report this case with a brief review of literatures.
이숙환(Sook Hwan Lee),윤태기(Tae Ki Yoon),차광열(Kwang Yul Cha),곽인평(In Pyung Kwak),김현주(Hyun Joo Kim),남윤성(Yoon Sung Nam) 대한산부인과학회 1999 Obstetrics & Gynecology Science Vol.42 No.3
Aneuploidy results from nondisjunction in either the meiotic division of the parents or the early cleavage divisions of the affected individuals. The sex chromosomes show a wide range of viable aneuploidy than do the autosomes. The incidence of 47,XXY and 47,XYY children increases with maternal age, as does that of autosomal trisomies, whereas the incidence of 45,X children does not increase with maternal age. In the group of sex chromosome aueuploidies, the 47,XXY and 47,XYY conditions occur with nearly equal hequency at birth. Translocations between X or Y chromosomes and an autosome or between an X chromosome and the Y chromosome cause sterility in human males. It has been assumed that a translocation involving either(or both) of the sex chromosomes would interfere with inactivation of the XY bivalent and thaeby disturb spermatogenesis. We bave experienced a case of Y-autosome translocation in azoospermic patient. So we report this case with a brief review of literatures.
형광직접접합법에 의한 인간정자의 연령별 염색체이상에 관한 연구
이숙환(Sook Hwan Lee),윤태기(Tae Ki Yoon),차광열(Kwang Yul Cha),곽인평(In Pyung Kwak),이재호(Jae Ho Lee),엄기봉(Ki Boong Oum),손지은(Jie Ohn Shon),고정재(Jung Jae Ko) 대한산부인과학회 1999 Obstetrics & Gynecology Science Vol.42 No.2
N/A Determmation of the chomosomal constitution of human spermatozoa has been camed out though the human-hamster interspecific in vitro fertilization(IVF) system. In recent years, the introduction of fluorescence in-situ hybridization(FISH) technique has provided an alternative approach to evaluate the cbmmosomal constitution of human spermatozoa. The nuclei of mature spermatozoa are highly condensed with interpmtamine disulphide bridges, therefore the success of FISH on interphase human spermatozoa relies on partial decondensation of the sperm chromatin. In early studies, dithioothreitol(DTT) has been known as an efficient decondensation agent. Since then, several different decondensation methods using D1T have been establisdhed, and in terms of decondensation, we were tried to fix the optimal decondensation protocol using DlT. In our study, the optimal concentration and treatment time were 1-mM and 30 min, respectively. We examined chromosome complements of human sperm to investigate the effect of paternal age on the hequency of nondisjunction in human sperm. We investgated sperm karyotypes ftom two diffaent age groups)28+-0.5, 46+-6), A minimum of 1000 spermatozoa for one patient were analyzed. The mean frequencies of YY, XX, XY, 21-disamy spermatozoa ware 0.04%, 0.45%, 0.40%, 0.45% respectively in young age group and 1.06%, 0.62%, 1.06%, 0.76% in old ages. The mean frequency of disomy spermatozoa was higher in old age poup compare with those of young age group.
이숙환(Sook Hwan Lee),윤태기(Tae Ki Yoon),차광열(Kwang Yul Cha),곽인평(In Pyung Kwak),남윤성(Yoon Sung Nam) 대한산부인과학회 1999 Obstetrics & Gynecology Science Vol.42 No.3
Polycystic ovary disease is a heterogenous endocrinopathy with many interacting causal factors. One potential such factor is chronic hyperinsulinemia. multiple, independent lines of evidence suppart the contention that chronic hyperinsulinemia causes ovarian hyperandragenism. This evidence includes: (1) mutations in the insulin receptor gene that cause severe hyperinsulinemia appear to be associated with ovarian hyperandrogenism, (2) insulin stimulates ovarian thecal and sttomal androgen seaetion in vitro, and (3) in some experimental models, manipulation of circulating insulin concentrations results in changes in circulating androgens. Although the association between hyperinsulinemia and hyperandrogenism remains to be fully explained at the molecular level, chronic hyperinsulinemia appears to be an important cause of hyperandrogenism. We have experienced a case of HAIR AN syndrome showing hyperandrogenism, insulin resistance and acanthosis nigricans in infertile patient. So we report this case with a brief review of literatures.
정자 직접 주입법으로 임신된 태아 145 예의 산전 세포유전학적 분석
이숙환(Sook Hwan Lee),엄기붕(Ki Boong Oum),이은정(Eun Jung Lee),윤태기(Tae Ki Yoon),차광열(Kwang Yul Cha),곽인평(In Pyung Kwak),최동희(Dong Hee Choi) 대한산부인과학회 1998 Obstetrics & Gynecology Science Vol.41 No.12
N/A Prenatal diagnoses were performed in 145 fetuses resulting from 73 singleton and 36 twin pregnancies, all established by intracytoplasmic sperm injection (ICS: amniocentesis in 108 patients and Chorionic villus sampling in one. The prenatal cytogenetic results were obtained from pregnancies after ICSI using ejaculated spermatozoa, epididymal spermatozoa, testicular spermatozoa and after the replacement of frozen-thawed embryos derived from ICSI. The Karyotypes were normal in 138 cases (95.2%) of the prenatal diagnoses and there were 2 cases (1.4%) de novo and 5 cases (3.4%) inherited chromosomal aberrations. The two cases of de novo abnormalities were: 46,XY,t(6;7)(q21;p22) and 47,XY,+21 (trisomy 21).