The effect of repressors on ion channel gene expression was studied. The hKv4. 3 promoter and the sequence （ ＋ 2-- ＋ 160, S160） of 5＇-UTR of the hKv4. 3 gene was cloned into the pβ-gal-Basic vector. The transien...The effect of repressors on ion channel gene expression was studied. The hKv4. 3 promoter and the sequence （ ＋ 2-- ＋ 160, S160） of 5＇-UTR of the hKv4. 3 gene was cloned into the pβ-gal-Basic vector. The transient expression of the pβ-gal vector and the analysis of the relative activity of β-galactosidase were carried out. The analysis of the mRNA level was carried out with the RT-PCR method. S160 could intensively repress the expression of the hKv4. 3 gene with position-specificity. The level of mRNA did not alter obviously. A repressor（ S160）, in 5＇-UTR of the hKv4. 3 gene was found and its repression to gene expression may play a role in the post-transcription process.展开更多
Charcot-Marie-Tooth （CMT） disease is the most common inherited peripheral neuropathic disorder. CMT is clinically and genetically heterogeneous. To date, 27 genes associated with the disease have been cloned. The pr...Charcot-Marie-Tooth （CMT） disease is the most common inherited peripheral neuropathic disorder. CMT is clinically and genetically heterogeneous. To date, 27 genes associated with the disease have been cloned. The present study carried out clinical classification according to clinical, electrophysiological and pathological features, conducted inheritance classification according to inheritance patterns, and performed mutation analysis of 13 CMT disease genes （PMP22, CX32, HSPB1, MNF2, MPZ, HSPB8, GDAP1, NFL, EGR2, SIMPLE, RAB7, LMNA, MTMR2） in 57 Chinese probands with CMT. Five cases of AD-CMT1 and 13 cases of sporadic CMT1 were diagnosed as CMT1A; five cases of X-CMT1, one case of X-CMT2 and one case of sporadic CMT1 were diagnosed as CMTXl; four cases of AD-CMT2 were diagnosed as CMT2F; one case of AD-CMT2 and one case of sporadic CMT2 were diagnosed as CMT2A2; one case of AD-CMT2 was diagnosed as CMT2L; one case of AD-CMT2 was diagnosed as CMT2J; one case of AR-CMT1 was diagnosed as CMT4A. Among the 57 CMT probands, seven genotypes were determined among 34 patients, with a detection rate of 59.6%. The results indicated that the clinical classification and inheritance classification are indispensable for selecting potential disease genes for mutation detection, and for efficient molecular diagnosis.展开更多
2022年是遗传学奠基人格雷戈尔·约翰·孟德尔(Gregor Johann Mendel,1822—1884)诞辰200周年。作为《孟德尔的生涯及业绩》一书的译者,并有幸成为我国遗传学界第一位访问孟德尔所在修道院——奥古斯丁修道院的学者,特撰此小文...2022年是遗传学奠基人格雷戈尔·约翰·孟德尔(Gregor Johann Mendel,1822—1884)诞辰200周年。作为《孟德尔的生涯及业绩》一书的译者,并有幸成为我国遗传学界第一位访问孟德尔所在修道院——奥古斯丁修道院的学者,特撰此小文,以兹纪念。198 4年是孟德尔逝世10 0周年。为隆重纪念孟德尔,中国遗传学会及其会长谈家桢先生准备出版一本孟德尔的传记。展开更多
文摘The effect of repressors on ion channel gene expression was studied. The hKv4. 3 promoter and the sequence （ ＋ 2-- ＋ 160, S160） of 5＇-UTR of the hKv4. 3 gene was cloned into the pβ-gal-Basic vector. The transient expression of the pβ-gal vector and the analysis of the relative activity of β-galactosidase were carried out. The analysis of the mRNA level was carried out with the RT-PCR method. S160 could intensively repress the expression of the hKv4. 3 gene with position-specificity. The level of mRNA did not alter obviously. A repressor（ S160）, in 5＇-UTR of the hKv4. 3 gene was found and its repression to gene expression may play a role in the post-transcription process.
基金the National Natural Science Foundation of China, No. 81071001, 30600200the Natural Science Foundation of Hu-nan Province, No. 2006JJ30009
文摘Charcot-Marie-Tooth （CMT） disease is the most common inherited peripheral neuropathic disorder. CMT is clinically and genetically heterogeneous. To date, 27 genes associated with the disease have been cloned. The present study carried out clinical classification according to clinical, electrophysiological and pathological features, conducted inheritance classification according to inheritance patterns, and performed mutation analysis of 13 CMT disease genes （PMP22, CX32, HSPB1, MNF2, MPZ, HSPB8, GDAP1, NFL, EGR2, SIMPLE, RAB7, LMNA, MTMR2） in 57 Chinese probands with CMT. Five cases of AD-CMT1 and 13 cases of sporadic CMT1 were diagnosed as CMT1A; five cases of X-CMT1, one case of X-CMT2 and one case of sporadic CMT1 were diagnosed as CMTXl; four cases of AD-CMT2 were diagnosed as CMT2F; one case of AD-CMT2 and one case of sporadic CMT2 were diagnosed as CMT2A2; one case of AD-CMT2 was diagnosed as CMT2L; one case of AD-CMT2 was diagnosed as CMT2J; one case of AR-CMT1 was diagnosed as CMT4A. Among the 57 CMT probands, seven genotypes were determined among 34 patients, with a detection rate of 59.6%. The results indicated that the clinical classification and inheritance classification are indispensable for selecting potential disease genes for mutation detection, and for efficient molecular diagnosis.
文摘2022年是遗传学奠基人格雷戈尔·约翰·孟德尔(Gregor Johann Mendel,1822—1884)诞辰200周年。作为《孟德尔的生涯及业绩》一书的译者,并有幸成为我国遗传学界第一位访问孟德尔所在修道院——奥古斯丁修道院的学者,特撰此小文,以兹纪念。198 4年是孟德尔逝世10 0周年。为隆重纪念孟德尔,中国遗传学会及其会长谈家桢先生准备出版一本孟德尔的传记。
