Waardenburg综合征(Waardenburg syndrome,WS)是一种常染色体显形遗传疾病,以毛发、皮肤、眼睛色素异常以及感音神经性听力障碍为特征。本文报告1例8月龄男患儿,表现为先天性耳聋伴双侧虹膜灰蓝色、毛发颜色偏黄、内眦外移。患儿及其家...Waardenburg综合征(Waardenburg syndrome,WS)是一种常染色体显形遗传疾病,以毛发、皮肤、眼睛色素异常以及感音神经性听力障碍为特征。本文报告1例8月龄男患儿,表现为先天性耳聋伴双侧虹膜灰蓝色、毛发颜色偏黄、内眦外移。患儿及其家系成员均进行基因测序分析。基因检测结果表明患儿存在MITF基因的c.970_972del(p.R324del)杂合变异,为新生变异;患儿父母该位点均无变异。根据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)指南判读该变异为致病变异。MITF基因c.970_972del(p.R324del)在WS2A型中为一新发突变位点,是导致该患儿患病的致病基因。展开更多
Object： To identify transcript variants and expression patterns of porcine Mitf. Materials and methods： A pairwise BLAST search at NCBI database was performed to deduce the structure of porcine Mitf gene. Subsequent...Object： To identify transcript variants and expression patterns of porcine Mitf. Materials and methods： A pairwise BLAST search at NCBI database was performed to deduce the structure of porcine Mitf gene. Subsequently, 5＇ RACE and fluorescent quantitative RT-PCR were used to analyze the expression pattern of porcine Mitf in different tissues. Results： Four transcript variants of porcine Mitf, MITF-A, MITF-H, MITF-M and MITF-SUS were identified, all sharing high homology with those in humans, except Mitf-SUS.Conclusion： The sequence of porcine Mitf appear highly homologous to human MITF. However, only 4 transcript variants of porcine Mitf were identified in these minipigs, less than the 9 transcript variants in human MITF.展开更多
文摘Waardenburg综合征(Waardenburg syndrome,WS)是一种常染色体显形遗传疾病,以毛发、皮肤、眼睛色素异常以及感音神经性听力障碍为特征。本文报告1例8月龄男患儿,表现为先天性耳聋伴双侧虹膜灰蓝色、毛发颜色偏黄、内眦外移。患儿及其家系成员均进行基因测序分析。基因检测结果表明患儿存在MITF基因的c.970_972del(p.R324del)杂合变异,为新生变异;患儿父母该位点均无变异。根据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)指南判读该变异为致病变异。MITF基因c.970_972del(p.R324del)在WS2A型中为一新发突变位点,是导致该患儿患病的致病基因。
基金supported by grants from the Major State Basic Research Development Program of China(973 Program)(#2011CBA01000)the National Basic Research Program of China(973 Program)(#2012CB967900)the National Natural Science Foundation of China(81400472)
文摘Object： To identify transcript variants and expression patterns of porcine Mitf. Materials and methods： A pairwise BLAST search at NCBI database was performed to deduce the structure of porcine Mitf gene. Subsequently, 5＇ RACE and fluorescent quantitative RT-PCR were used to analyze the expression pattern of porcine Mitf in different tissues. Results： Four transcript variants of porcine Mitf, MITF-A, MITF-H, MITF-M and MITF-SUS were identified, all sharing high homology with those in humans, except Mitf-SUS.Conclusion： The sequence of porcine Mitf appear highly homologous to human MITF. However, only 4 transcript variants of porcine Mitf were identified in these minipigs, less than the 9 transcript variants in human MITF.
