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囊性纤维化基因突变在患有阻塞性亚精子症的男性中没有通过常规检测检测到的比例
1Department of Surgery, Mount Sinai Hospital, Toronto, Ontario, Canada.
JAMA
|June 22, 1999
概括
广泛的基因查检测到更多的囊性纤维化外膜导电性调节器 (CFTR) 基因突变与常规测试在男性阻塞性亚精. 这凸显了需要进行全面分析,以防止CFTR突变的潜在传播.
科学领域:
- 遗传学 是一个遗传学.
- 生殖医学 生殖医学
- 分子生物学分子生物学
背景情况:
- 在男性中,阻塞性精症可能与囊性纤维化跨膜导电性调节器 (CFTR) 基因的突变有关.
- 许多导致不孕不育的CFTR突变是罕见的,并没有被经典囊性纤维化标准查面板识别出来.
研究的目的:
- 为了评估CFTR突变的频率和顺序变化错过了常规查在男性阻塞性亚精.
- 为了确定超越标准CFTR突变面板的综合基因分析的诊断产量.
主要方法:
- 对31种常见的CFTR突变和IVS8-5T变异检测进行了例行查.
- 采用多重异质双重转移分析和直接DNA测序来进行全面的外子查.
- 分析了198名患有阿佐精子症 (阻塞性和非阻塞性) 的男性,包括先天双侧缺陷 (CBAVD),先天单侧缺陷 (CUAVD) 和异常发疹阻塞.
主要成果:
- 常规查错过了可检测的CFTR突变和IVS8-5T变异在阻塞性亚精子症子组中的显著比例.
- 在CBAVD组中,综合测试发现了72个突变,而常规面板发现了39个突变 (P<.001).
- 在非全方位的膜阻塞中,综合测试发现了24种突变,而常规面板发现了5种 (P=.33),常规查错过了79%的可检测突变.
结论:
- 标准CFTR突变查可能无法检测轻度或罕见的遗传改变.
- 辅助生殖技术的进步需要进行彻底的遗传评估,以减轻因子转移致病CFTR突变到后代的风险.
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