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자폐장애 환자에서 FMR-1 유전 삼염기 반복의 분자생물학적 분석
곽호순,정철호,전효진,장은진,김희철,김정범,박영남 대한소아청소년정신의학회 2000 소아청소년정신의학 Vol.11 No.1
연구목적 : 자폐장애의 원인을 유전학적으로 규명하려는 연구가 시도되고 있으며, 그 중 fragile-X 증후군과의 연관성에 대한 연구가 활발히 진행되고 있다. fragile-X 염색체(Xq27.3)는 세포유전학적 방법으로 증명할 수 있으나 검사에 많은 제약과 단점이 있으므로, 본 연구에서는 보다 신뢰성이 높은 분자 생물학적 방법으로 FMR-1 유전자내 CGG 삼염기 반복부위를 분석하여 자폐장애와 fragile-X 증후군의 연관성을 규명하고자 하였다. 방법 : 자폐장애 환아(99명)와 정상대조군(8명)을 대상으로 FMR-1 유전자의 CGG 반복배열 부위를 sense와 antisense primer를 이용하여 PCR법으로 분석하엿으며, 동시에 세포유전학적 검사도 시행하였다. PCR 분석에서 CGG 반복수가 50 이상인 경우에 대해서는 StB12.3 혹은 Pfxa3 probe를 이용한 Sourthern blot hybridization으로 확인하였다. 결과 : FMR-1 유전자의 CGG 반복배열에 대한 PCR 분석 결과 CGG 삼염기의 반복배열의 수는 자폐장애 환자군과 정상대조군 사이에 통계적으로 유의한 차이가 없었다(p=0.207). 자폐장애 환자에서 CGG 반복수가 50회 이상인 조기변이(premutation) 환자가 2명 있었으나 Sourthern blot hybridization 결과 완전변이(full mutation)로 판정할 수 있는 경우는 없었다. 세포유전학적 검사에서 환자군 모두에서 정상 핵형을 나타내었으며 fragile-X 염색체는 확인되지 않았다. 결론 : 이상의 결과에서 자페장애 환자가 FMR-1 유전자의 CGG 삼염기 반복부위 이상, 즉 fragile-X 염색체 이상을 동반하지 않았음을 증명할 수 있었다. 이는 fragile-X 증후군을 자�장애의 직접적인 원인이라고 보기에는 어려움이 있음을 시사한다. Objectives : There has been a rapid expansion of studies aimed at elucidating the genetic basis of autistic disorder, especially it's relationship to fragile-X syndrome. The detection of fragile X chromosome(Xq27.3) by cytogenetic analysis has revealed many difficulties in testing. Therefore, to explore the relationship between autistic disorder and fragile X syndrome, this study administered molecular biologic methods which examined an unstable CGG repeat within the fragile X mental retardation-1(FMR-1) gene. Methods : Ninety nine autistic children and eight normal control children were tested. The number of CGG repeats within FMR-1 gene was measured after amplification by PCR, and cytogenetic analysis was also carried out to detect fragile site Xq27.3. Sourthern blot hybridization, using StB12.3 and/or Pfxa3 probe, was done for the patients showing expansion of more than 50 CGG repeats(premutation). Results : All but two autistic patients had no expansion in CGG repeats by PCR and there was no significant statistical difference in number of CGG repeat in comparison with normal control. Two autistic patients, considered as premutation by PCR analysis, had no full mutation or premutation by Southern blot hybridization. All autistic children tested did not have any abnormal karyotype or fragile site Xq27.3. Conclusions : These results suggest that autistic patients may not have abnormality in FMR-1 gene or abnormal expansion in CGG repeat. In conclusion, fragile X syndrome may not be antecedent of autistic disorder. KEY WORDS : Autistic disorder·FMR-1 gene trinucleotide repeats·Molecular biologic analysis.
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Mattis Dementia Rating Scale(MDRS)의 비치매 노인군에 대한 연구
하재창,박종한,곽호순 大韓神經精神醫學會 1990 신경정신의학 Vol.29 No.6
Mattis Dementia Rating Scale(MDRS) was tested for 144 nondemented Korean elderly whose age were 60 or more in years. The study attempted to evaluate the relationship between the Korean version of Mini-Mental State Examination(MMSE-K) scores and MDRS scores and the relaitonship between the demographic factors and the MDRS scores. The results are as follows: 1) The test-retest reliability coefficient was 0.938 and the interest reliability coefficient was 0.998. 2) The total score of MDRS was 136±10.3. 3) The correlation between the raw MMSE-K scores and the MDRS scores was significantly high degree and that of the corrected MMSE-K scores was also significantly high degree, each correlation of r=0.693 and r=0.615. 4) Age and education had significant effects on the total scores of MDRS, but both variables had no significant effects on the subtest of initiation/perseveration, and age had not significant effect on the subtest scores of conceptualization. 5) The total scores of MDRS and the subtest scores of attention, construction, conceptualization of male were significantly higher than those of female, but there were no significant sexual difference on the subtest scores of initiation/perseveration and memory. 6) There was significant correlaiton between subtest scores and total scores. But there were no significant correlation between the subtest scores of initiaion/perseveration and attention and between the subtest scores of initiation/perseveration and conceptualization.
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尹能基,廓護淳,李性寬,申哲植 啓明大學校 醫科大學 1984 계명의대학술지 Vol.3 No.2
都市周邊住民들의 日常生活은 環境衛生施設에 未備狀態에 따라 經濟的으로 貧困한 사람들은 保健行態에 있어서 一般住民에 比하여 非衛生的이고 日常習性에 있어서도 吸煙 및 飮酒率이 一般人보다 高率인 同時에 過多吸煙 過多飮傾向이었다. 이는 健康에 지장을 줄 뿐만 아니라 이는 家計에다 영향을 끼쳐 貧困과 疾病의 惡循環을 되풀이 하고 있다. 子女生産率에서도 姙娠數에 있어서 貧困層은 一般人에 比하여 많았고 現想子女數 亦是 많음을 알 수 있었다. 慢性病有病率은 全體로서 22.5%였고 이중 神經痛이 가장 많았고 다음이 胃腸病, 高血壓, 心臟病 및 肝臟病의 順이었다. 20歲以上者의 慢性病有病率은 貧困者는 81%로 一般人에 比하여 約 2倍나 높았다. 疾病時에 醫療機關利用狀況은 醫療保護對象者는 受診機關이 保健所로 指定되어 있으나 保健所利用은 41%에 지나지 않고 藥局利用이 26%, 其他醫療機關利用이 28%였다. 醫療保險對象者는 처음부터 綜合病院 및 專門醫 利用이 63%의 高率이고 自費患者는 漢醫利用이 30%의 高率로서 醫療機關利用에 있어서 不合理性을 確認하였다. Most of residents in suburban area consist of the people who came from rural area to get a job recklessly. They have high prevalence of disease because of unhygienic environmental condition and poor economic situation. The data were analysed by the type of medical care services i.e. medical aid, their own expenses and medical insurance. Medical aid group showed unhygienic behavior in daily life and habit; the rates of smoking and drinking were higher than those of them own expenses group and medical insurance group. Fertility rate and ideal number of children were higher in medical aid group compared to those of other two groups. Prevalence rate of chronic disease in persons over 20 years of age was as high as twice that of other two groups. Classifying the first contact of medical facilities by the type of medical care services, medical aid group used primarily health center by 41%, drug store by 20% and other medical facilities by 28%, medical insurance group used primarily general hospital and sol practice of specialist by 63%. general practitioner by 21%, Their own expense group used primarily general hospital und sol practice of specialist by 42%, herb medicine by 30%.
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