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�й�ҩѧ��־ 2005, Vol. 39 Issue (22) :1730-1733    DOI:
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1.�й�ҽѧ��ѧԺ-�й�Э��ҽ�ƴ�ѧ����Э��ҽԺҩ���� ���� 100730;2.�й�ҽѧ��ѧԺ-�й�Э��ҽ�ƴ�ѧ����Э��ҽԺ��ʪ���߿� ���� 100730
ZHANG Bo1�� XU Xiao-wei1��ZENG Xue-jun2�� LI Da-kui1
1. Department of Pharmacy�� Peking��Union Medicine College Hospital��Peking Union Medical College-Chinese Academy of Medical Sciences�� Beijing 100730�� China��2.Department of Rheumatology and Immunology�� Peking Union Medicine College Hospital Peking Union Medical College-Chinese Academy of Medical Sciences��Beijing 100730��China

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ժҪ Ŀ�ij������챱���������彡���˺���Ժ�������߲����������ʼ׻�ת��ø(thipurinemethyltransferase,TPMT)���Ŵ���̬�ԡ��������ø�ЧҺ��ɫ�׷��ⶨ��ϸ����TPMT����;����������������-���ø����Ӧ(SSP-PCR)�����ø����Ӧ-������Ƭ�ϳ���̬����(PCR-RFLP)���TPMTͻ���λ���򡣽��269�����彡����TPMT���Գ���̬�ֲ�,������7.23��21.40��mol��h-1��L-1RBCs֮��,ƽ��������(13.27��2.19)��mol��h-1��L-1RBCs����ø�����ߺ͵�ø�����ߵķֽ����10.48��mol��h-1��L-1RBCs,��ø������17��,ռ��������6.3%,��ø������252��,ռ��������93.7%,δ����TPMT����ȱ���ߡ�����TPMTƽ�����Ա�Ů���Ը�(P<0.05);95���������߲�����TPMT������3.50��40.12��mol��h-1��L-1RBCs֮��,ƽ��������(15.72��4.99)��mol��h-1��L-1RBCs,���ڽ�����,�������������Բ��졣14����ø�����߾���ͻ���λ����;10����ø��������,��5������TPMTͻ���λ����,����TPMT*2ͻ���λ����1��,TPMT*3C��λͻ�����5��;TPMT���Ժͻ����ͳ����������(Kendall��s_b=0.972,P<0.01)�����۱����������彡����TPMT���Գ���̬�ֲ�,����TPMT�����Ը���Ů��(P<0.05);�������߲�����TPMT���Ը�������Ƚ����˴���ʾ���ٴ�ʹ��������ҩ��ʱ,Ӧ���ǻ���TPMT���Ի������,�������Ч��,�������ز�����Ӧ��
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Abstract�� OBJECTIVE To gain an insight into the genetic polymorphism of thiopurine methyltransferase (TPMT) in Han nationality in Beijing in China. METHODS The erythrocyte TPMT activity in 269 healthy Chinese volunteers and 95 patients with autoimmune disease were investigated by HPLC. The genotype assay was based on special sequence primer-polymerase chain reaction (SSP-PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) .RESULTS The TPMT activity of 269 healthy volunteers was normally distributed, ranged from 7.23 to 21.40 ��mol��h-1��L-1 RBCs, x��s was (13.27��2.19)��mol��h-1��L-1 RBCs. The possible cut-off point for high TPMT activity and low activity subject was 10.48��mol��h-1��L-1 RBCs. There were 17 subjects with low activity (6.3%) and 252 subjects with high activity (93.7%) , and no TPMT deficiency subject was found. The TPMT activity in male subjects was higher than that in female subjects, (13.43��2.27)��mol��h-1��L-1 RBCs vs(12.92��1.97)��mol��h-1��L-1 RBCs, respectively. The TPMT activity of patients ranged from 3.50 to 40.12��mol��h-1��L-1 RBCs, x��s was (15.72��4.99)��mol��h-1��L-1 RBCs, which was higher than that of healthy volunteers, but the difference was not significant. 14 subjects with high TPMT activity had no mutant alleles, while 5 of 10 subjects with low activity had mutant alleles: one of them had TPMT * 2 mutant allele, 5 of them had TPMT * 3C mutant allele. CONCLUSION The TPMT activity of Han nationality was normally distributed,male had higher activity than female; Patients had higher activity than healthy volunteers, but the difference was not significant; the interindividual variation of patients was larger than that of healthy volunteers.
Keywords�� thiopurine methyltransferase,   genetic polymorphism     
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.�������������������ʼ׻�ת��ø���Էֲ�״���ͻ����ͷ���[J]  �й�ҩѧ��־, 2005,V39(22): 1730-1733
.Phenotypic and genotypic analysis of the TPMT in Han nationality in Beijing [J]  Chinese Pharmaceutical Journal, 2005,V39(22): 1730-1733
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