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X连锁脊延髓肌萎缩症(SBMA)或肯尼迪病是一种成年人发病的神经变性疾病,以肌无力与慢性、进行性肌萎缩为特征.通过PCR片段测序和基因分型法准确检测雄激素受体(AR)基因CAG复制数目,兄弟俩(来自同一个中国家庭)被确诊为隐性遗传性SBMA.为了得到该中国家庭SMBA家系人员AR基因的CAG复制数目,我们采用了PCR片段测序和基因分型两种方法.在该SMBA家系中有两个已发病的成年男性、未发病的年轻男性,及女性基因携带者.两个已发病男性患者AR基因中CAG三核苷酸串重复数目分别是48和45.以前的研究表明特定三核苷酸串重复数目的扩增可导致人类遗传性神经障碍疾病发病。我们的研究结果完全支持这一观点,SMBA中国家系的三核苷酸CAG拷贝数目检测结果表明,AR基因CAG扩增数目与SMBA发病相关.
X-linked spondylotrophic muscular atrophy (SBMA) or Kennedy disease is a neurodegenerative disorder of adult onset characterized by muscle weakness and chronic, progressive amyotrophy. The detection of androgen by the PCR fragment sequencing and genotyping method Recipient (AR) gene CAG copy number, two brothers (from the same Chinese family) was diagnosed as recessive inheritance of SBMA.In order to get the Chinese family SMBA pedigree AR gene CAG copy numbers, we used PCR fragment sequencing and Genotyping two methods in the SMBA pedigree has two adult male onset, uninvolved young men, and female gene carriers.The incidence of CAG trinucleotide nucleotide repeats 48 and 45. Previous studies have shown that the number of repeats of a given trinucleotide sequence can lead to the development of human genetic disorders. Our findings fully support this view. The number of trinucleotide CAG copies in the SMBA Chinese pedigree indicates that the number of CAG-amplified AR genes is associated with the onset of SMBA.