Objective: to establish an efficient method to detect fragileXchromosome syndrome (FraX) by optimizing PCR amplifying condition.
目的:优化PCR扩增条件,建立一种有效检测脆性X综合征的方法。
2
The probands of pedigrees E and F of the mother were found with suspicions fragileXchromosome, being confirmed as the non-fragileX pedigrees by the molecular genetic test.
家系先证者及其母亲,F家系先证者发现可疑脆性X染色体,分子遗传学检查证实为非脆性X综合征家系。
3
FragileX syndrome, a single genetic mutation on the X chromosome, is the most common source of inherited mental impairment, affecting one in every 4,000 boys and one in every 6,000 girls.