Yamauchi M, Seki N, Hori T
Division of Genetics, National Institute of Radiological Sciences, Chiba, Japan.
Jpn J Hum Genet. 1992 Sep;37(3):195-203. doi: 10.1007/BF01900713.
The fragile X syndrome is a common familial form of mental retardation and is associated with a rare fragile site at Xq27.3 (FRAXA). This disorder has recently been reported to correlate with length variations of restriction genomic DNA fragments which may due to the amplification of (CCG)n trinucleotide repeats located at the FRAXA locus. We described here a rapid preparation method of diagnostic DNA probes for the fragile X syndrome by direct enzymatic amplification of human chromosomal DNA. The PstI-assay, which is Southern blot analysis of DNA samples probed by PCR products, was shown to be sensitive method for diagnostic purposes to detect the size variations specific in the fragile X syndrome.
脆性X综合征是一种常见的家族性智力迟钝形式，与Xq27.3（FRAXA）处的一个罕见脆性位点相关。最近有报道称，这种疾病与限制性基因组DNA片段的长度变化相关，这可能是由于位于FRAXA位点的（CCG）n三核苷酸重复序列的扩增所致。我们在此描述了一种通过直接酶促扩增人染色体DNA来快速制备脆性X综合征诊断性DNA探针的方法。PstI分析，即对用PCR产物探测的DNA样本进行Southern印迹分析，被证明是一种用于诊断目的的灵敏方法，可检测脆性X综合征特有的大小变化。
