An excess of chromosome 1 breakpoints in male infertility
An excess of chromosome 1 breakpoints in male infertility
复制标题
DOI：
10.1038/sj.ejhg.5201263
复制
发表时间：
2004-12-01
影响因子：
5.2
通讯作者：
Tommerup, N
中科院分区：
文献类型：
--
作者：
Bache, I;Van Assche, E;Tommerup, N
为了寻找可能通过染色体断点聚类揭示的潜在不育位点，我们从孟德尔细胞遗传学网络数据库（MCNdb）中收集了464名重排平衡的不育男性，并将他们的核型与丹麦全国队列的核型进行了比较。我们排除了罗伯逊易位、涉及性染色体的重排和常见变异。我们发现了10个常染色体带，其中5个在1号染色体上，在不孕症组中有大量的断点。其中一些可能潜藏着男性特有的不育位点。然而，在不育男性中，几乎在1号染色体上的任何地方都观察到普遍过量的断点：26.5对14.5%。在已发表和未发表的病例中，在易位和反转携带者中都观察到这种过剩，特别是中心周围反转，并且与无精子症显著相关。21年第一季度报告了最多的断点；其中四个断点的FISH图谱显示，它们在分子水平上不涉及同一区域。我们认为1号染色体包含一个关键区域，其完整性对男性生育能力至关重要。
In a search for potential infertility loci, which might be revealed by clustering of chromosomal breakpoints, we compiled 464 infertile males with a balanced rearrangement from Mendelian Cytogenetics Network database (MCNdb) and compared their karyotypes with those of a Danish nation-wide cohort. We excluded Robertsonian translocations, rearrangements involving sex chromosomes and common variants. We identified 10 autosomal bands, five of which were on chromosome 1, with a large excess of breakpoints in the infertility group. Some of these could potentially harbour a male-specific infertility locus. However, a general excess of breakpoints almost everywhere on chromosome 1 was observed among the infertile males: 26.5 versus 14.5% in the cohort. This excess was observed both for translocation and inversion carriers, especially pericentric inversions, both for published and unpublished cases, and was significantly associated with azoospermia. The largest number of breakpoints was reported in 1q21; FISH mapping of four of these breakpoints revealed that they did not involve the same region at the molecular level. We suggest that chromosome 1 harbours a critical domain whose integrity is essential for male fertility.