Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis.
Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis.
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DOI：
10.1001/jama.1992.03480130110034
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发表时间：
1992-04
期刊：
影响因子：
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通讯作者：
A. Anguiano;R. Oates;J. Amos;Michael Dean;B. Gerrard;C. Stewart;T. Maher;M. White;A. Milunsky-A.
中科院分区：
文献类型：
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作者：
A. Anguiano;R. Oates;J. Amos;Michael Dean;B. Gerrard;C. Stewart;T. Maher;M. White;A. Milunsky-A.
Objective.几乎所有患有囊性纤维化（CF）的男性都没有输精管。已经表明，具有先天性双侧输精管缺失（CBAVD）的健康男性（先前被认为是一种独特的遗传实体）具有增加的CF基因突变频率。这项研究检查了这两种疾病的遗传共性。设计我们在25名CBAVD患者中分型了6种常见的CF基因突变。使用单链构象多态性和直接DNA测序寻找其他罕见突变。当发现罕见突变时，在CF患者和专性CF携带者的大样本中寻找它们，以排除它们作为多态性。设置. - 所有患者都在一家教学医院的男性不育诊所就诊。科目-25例无血缘关系的CBAVD无精子症男性，其中大部分为北方欧洲血统。结果25名CBAVD患者中有16名（64%）至少有一个可检测到的CF突变，是预期频率的16倍（P <0.05）。- 一些（如果不是全部的话）其他方面健康的CBAVD男性反映了一种新认识的CF表型，主要是生殖器表型。在进行精子抽吸治疗不孕症之前，应建议对他们及其伴侣以及他们的亲属进行CF突变分析。（JAMA. 1992;267：1794-1797）
Objective. —Almost all males with cystic fibrosis (CF) have absent vasa deferentia. It has been suggested that otherwise healthy males with congenital bilateral absence of the vas deferens (CBAVD), previously considered a distinct genetic entity, have an increased frequency of CF gene mutations. This study examined the genetic commonality of these two disorders. Design. —We typed six common CF gene mutations in 25 patients with CBAVD. Additional rare mutations were sought using single-stranded conformation polymorphisms and direct DNA sequencing. When rare mutations were found, they were sought in a large sample of both CF patients and obligate CF carriers to exclude them as polymorphisms. Setting. —All the patients presented to a male infertility clinic of a teaching hospital. Subjects. —Twenty-five unselected, unrelated azoospermic men with CBAVD, most of them of Northern European ancestry. Results. —Sixteen (64%) of the 25 men with CBAVD had at least one detectable CF mutation, 16 times the expected frequency (P Conclusions. —Some, if not all, otherwise healthy men with CBAVD reflect a newly recognized, primarily genital, phenotype of CF. Prior to sperm aspiration to remedy infertility, CF mutation analysis should be recommended for them and their partners, as well as for their relatives. (JAMA. 1992;267:1794-1797)