• Journal of Genetic Medicine
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• 제4권1호
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• pp.84-87
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• 2007

척수소뇌성 실조증3는 신경세포의 손상으로 인해 생기는 질병으로 염색체14q32.1지역에 반복적인 CAG 삼염기 서열이 증가하면서 일어나는 것으로 알려져 있다. 본 증례는 척수소뇌성 실조증3으로 진단을 받은 부부에서 자연 임신한 태아를 산전진단한 경우로서 형광으로 포식된 표지자를 이용하여 CAG 지역을 증폭하여 빠르고 정확하게 반복수를 확인하는 방법을 이용하였다. 남편의 경우 CAG반복을 넘는 69개의 반복과 정상인 27개의 반복된 유전자를 갖고 있는 것으로 확인하였으며, 산모의 경우 정상인 26과 32개의 반복된 유전자를 갖고 있는 것으로 확인하였다. 태아는 부계의 27과 모계의 26개를 갖는 정상 유전자를 물려 받은 것으로 확인되어 건강한 아기를 분만하였다. 형광을 이용한 진단방법은 방사능을 사용하는 방법에 비해 안전하고 빠른 진단을 할 수 있으며 시료 채취 후 5-6시간 안에 정확하게 결과를 확인할 수 있는 방법이라 생각된다.

• 생물정신의학
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• 제21권3호
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• pp.99-106
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• 2014

Objectives Previous studies suggest that the cannabinoid receptor 1 (CNR1) gene could be an important candidate gene for schizophrenia. According to linkage studies, this gene is located on chromosome 6q14-q15, which is known to harbor the schizophrenia susceptibility locus (locus 5, SCZ5, OMIM 803175). The pharmacological agent delta-9-tetrahydrocannabinol (${\Delta}$-9-THC) seems to elicit the symptoms of schizophrenia. The association between CNR1 polymorphisms and schizophrenia is actively being investigated, and some studies have linked the AAT-trinucleotide repeats in CNR1 to the onset of schizophrenia. In this study, we have investigated the association between the AAT-trinucleotide repeats in CNR1 and schizophrenia by studying schizophrenia patients and healthy individuals from Korea. Methods DNA was extracted from the blood samples of 394 control subjects and 337 patients diagnosed with schizophrenia (as per the Diagnostic and Statistical Manual of Mental Disorders, fourth edition criteria). After polymerase chain reaction amplification, a logistic regression analysis, with age and gender as the covariates, was performed to study the variations in the AAT-repeat polymorphisms between the two groups. Results In total, 8 types of trinucleotide repeats were identified, each containing 7, 8, 10, 11, 12, 13, 14, and 15 repeats, respectively. $(AAT)_{13}$ allele was most frequently observed, with a frequency of 33.6% and 31.6% in the patient and control groups, respectively. The frequency of the other repeat alleles in the patient group (in the decreasing order) was as follows : $(AAT)_{13}$ 33.6%, $(AAT)_{14}$ 21.6%, $(AAT)_{12}$ 18.5%, and $(AAT)_{7}$ 11.1%. The frequency of the repeat alleles in the control group (in the decreasing order) was as follows : $(AAT)_{13}$ 31.6%, $(AAT)_{14}$ 24.5%, $(AAT)_{12}$ 17.2%, and $(AAT)_{7}$ 11.6%. However, there were no significant differences in the AAT-repeat polymorphisms of the CNR1 gene between the patient group and the control group. Conclusions Although our study revealed no significant association of the AAT-repeat polymorphism of the CNR1 gene with schizophrenia, it will serve as a good reference for future studies designed to examine the cannabinoid hypothesis of schizophrenia.