强直性营养不良
生物
三核苷酸重复扩增
非翻译区
分子生物学
基因
遗传学
肌强直
信使核糖核酸
编码区
突变体
等位基因
作者
Paul Carango,J.Elizabeth Noble,Harold G. Marks,Vicky L. Funanage
出处
期刊:Genomics
[Elsevier]
日期:1993-11-01
卷期号:18 (2): 340-348
被引量:121
标识
DOI:10.1006/geno.1993.1474
摘要
Myotonic dystrophy is an autosomally dominant inherited disease in which system-wide abnormalities are caused by a triplet repeat expansion within the 3' untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. To determine the effect an expanded repeat region has on DMPK expression, we have separated the chromosome 19 homologues from a 36-year-old woman with myotonic dystrophy into different cell lines by way of somatic cell hybridization. Hybrid DM9101 contains the normal DMPK allele (13 repeats), whereas hybrid DM1115 harbors the mutant allele (approximately 133 repeats). Reverse transcription/polymerase chain reaction (RT/PCR) amplification of coding sequences from the DMPK gene has shown both reduced levels of primary DMPK transcripts and impaired processing of these transcripts in hybrid cell line DM1115. These findings suggest that the presence of a large number of repeats in the 3' untranslated region of the DMPK gene reduces both the synthesis and the processing of DMPK mRNA, resulting in undetectable levels of processed DMPK mRNA from the mutant allele.
科研通智能强力驱动
Strongly Powered by AbleSci AI