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모체 혈액을 이용한 태아 유핵 적혈구 분리기법에 따른 산전 유전진단
전여진 ( Yeo Jin Jeon ),권경훈 ( Kyung Hun Kwon ),황효성 ( Hyo Sung Hwang ),이소현 ( So Hyun Lee ),방명걸 ( Myung Geol Pang ),안정자 ( Jung Ja Ann ),전선희 ( Sun Hee Chun ),김영주 ( Young Ju Kim ) 대한산부인과학회 2007 Obstetrics & Gynecology Science Vol.50 No.6
목적: 태아 유핵 적혈구의 분리를 하여 FISH에 의해 산전 태아의 성과 염색체 이수성을 확인하기 위해 본 연구를 시행하였다. 연구방법: 말초혈액샘플은 임신 11주에서 24주 사이의 37명의 여성으로부터 수집되었다. 모체혈액으로부터 double density gradient와 magnetic activating cell sorting방법을 시행한 후 Kleihaur-Betke 염색을 통해 태아 유핵 적혈구를 형태학적으로 관찰하였다. K-B positive한 유핵 적혈구에 CEP X와 CEP Y probe를 이용한 FISH를 시행하여 유핵 적혈구의 성별 확인을 통해서 태아 기원 유무를 확인하였다. 결과: 10 ml의 혈액에서 분리한 K-B positive한 유핵 적혈구는 평균 17.3 (±17.2)개였으며, 최대 54개의 유핵 적혈구가 관찰되었다. 이 중 양수검사를 확인한 총 18명의 산모에서 분리한 유핵 적혈구의 67.3%에서 CEP Y probe의 signal을 확인하였다. 결론: 우리는 분리된 태아 유핵 적혈구를 이용해서 FISH 기법을 통해 태아 성별을 판정할 수 있을 뿐만 아니라 태아의 염색체의 이수성을 진단하는데 있어서의 활용 가능성을 확인할 수 있었다. 분리한 유핵 적혈구 중 모체 기원의 유핵적혈구가 포함되어 있어서 추후 이를 선별해 내는 방법에 대한 연구가 필요할 것으로 사료된다. Objective: To identify prenatal fetal sex and chromosomal aneuploidies by FISH using isolation of fetal nucleated RBCs. Methods: peripheral blood samples was collected from 37 women between 11 and 24 weeks of gestation. we tried to enrich nucleated RBCs morphologically by Kleihaur-Betke staining after double gradient centrifugation and magnetic activating cell sorting (MACS) from maternal blood. Fluorescence in situ hybridization (FISH) analyses with CEP X and CEP Y probes for K-B positive nucleated RBCs were performed to detect whether fetal cells were existed among nucleated RBCs by observation of sex chromosomes. Results: The average number of K-B positive nucleated RBCs separated from 10ml of maternal blood was 17.3 (±17.2) and the maximum number of nucleated RBCs was 54. We observed FISH signals in nucleated RBCs separated from 18 pregnant women, and Y probe signals were observed in 67.3% of nucleated RBCs separated from 10 pregnant women. Conclusion: We confirmed that separated nucleated fetal RBCs can be used to identify fetal sex and chromosomal aneuploidies by FISH. Since nucleated RBCs from maternal origin were not excluded, further studies are needed to overcome this limitation.
황시목 ( Si Mok Hwang ),권경훈 ( Kyoung Hun Kwon ),오선경 ( Sun Kyung Oh ) 서울대학교 인구의학연구소 2011 人口醫學硏究論集 Vol.24 No.-
Invasive prenatal diagnosis is the most commonly used method for detection of chromosomal aneuploidy or other generic disorders. We performed this study to analyze the indications, distributions of maternal age and cytogenetic results of prenatal cytogenetic examinations, and to evaluate the usefulness of prenatal diagnosis. A cytogenetic analysis of 712 cases (698 amniotic fluid samples, 14 chorionic villi samples) was performed at the GenDix, Inc. from January to December, 2010. The overall rate of chromosomal abnormalities was 7.6% (54 out of 712 cases). The average maternal age of coral subjects was 35.94.2 years, and the most common age group was from 35 to 39 (47.9%). The most frequent indication for prenatal cytogenetic diagnosis was advanced maternal age (>35yr) (42.1%) and positive maternal serum screening (41.0%). Among the 54 cases of chromosomal abnormalities, it contains 28 cases (51.9%) of numerical abnormalities and 26 cases (48.1%) of structural abnormalities. The most frequent structural aberrations were inversion with 69.2% (18 our of 26 cases). Advanced maternal age and positive maternal serum screening must be important screening methods for prenatal diagnosis which is considered to the most effective diagnostic procedure for prenatal cytogenetic studies. Cytogenetic analysis is efficacious method for detection of chromosomal aberration and genetic counseling for parents.
황시목 ( Si Mok Hwang ),권경훈 ( Kyoung Hun Kwon ),오선경 ( Sun Kyung Oh ) 서울대학교 인구의학연구소 2012 人口醫學硏究論集 Vol.25 No.-
This study was performed to analyze the indications and to evaluate the recent ftequency of karyotypes in different sex chromosome abnormalities. We investigated 26 cases(amniotic fluid 8 cases, peripheral blood 12 cases, abortus tissue 5 cases, chorionic villus sampling 1 case) in which sex chromosome abnormalities has been found in cytogenetic analysis. The frequencies of different sex chromosome abnormalities were Turner syndrome 61.6%(16/26), Klinefelter syndrome 30.8%(8/26), XYY syndrome 3.8% and XX male 3.8%. We have to pay careful attention in diagnoses of Turner syndrome because of the high proportion of mosaicism. In this study, we will be provided information in sex chromosome abnormalities analysis, its diagnostic problems and make possible genetic counseling.
황시목(Si-Mok Hwang),권경훈(Kyung-Hun Kwon),윤경아(Kyung-Ah Yoon),오선경(Sun-Kyung Oh) 대한의학유전학회 2009 대한의학유전학회지 Vol.6 No.1
목적: 자연 유산의 가장 흔한 원인은 수태산물의 염색체 이상으로 알려져 왔다. 따라서 환자들의 상담 및 치료에 유용한 정보를 얻기 위해 염색체 이상의 빈도와 유형을 조사하였다. 대상 및 방법: 2006년 1월부터 2007년 12월까지 수탁된 75례의 자연유산 수태산물에서 세포유전학적 분석을 수행하였다. 결과: 수태산물의 염색체 이상 빈도는 32.0% (24/75례)였다. 염색체 이상들 중 삼염색체는 62.5% (15/24례)였고, 대부분의 삼염색체로는 21번 염색체의 삼염색체가 26.6% (4/15례), 다음으로 흔한 이상으로는 22번 삼염색체가 3례, 20번 삼염색체가 2례였다. 비정상 핵형의 모성 나이의 평균은 34.3±3.3세였다. 결론: 유산 수태산물의 세포유전학적 분석은 자연 유산 환자들을 위한 진단과 유전상담에 중요하다고 할 수 있다. Purpose: Chromosomal abnormalities of abortuses have been used to investigate common etiologies of spontaneous abortion, but the frequencies and types of spontaneous abortions have demonstrated considerable variation among different countries and races. Materials and Methods: A cytogenetic analysis of 75 abortuses was performed at GenDix, Inc. from January 2006 to December 2007. Results: The frequency of chromosome abnormalities in abortuses was 32.0% (24/75 cases). Among the chromosomal abnormalities, trisomy was present in 62.5% (15/24 cases) of cases and the most frequent trisomy was trisomy 21 with an occurrence rate of 26.6% (4/15 cases). The following was trisomy 22 (3/15 cases) and trisomy 20 (2/15 cases). The average maternal age for abnormal karyotypes was 34.3±3.3. Conclusion: Cytogenetic analysis of abortus is important for diagnosis and genetic counseling of patients with spontaneous abortion.