MEIOSIS IN MEN AND RISKS ASSOCIATED WITH ICSI

描述：(改编自申请人的摘要)减数分裂是一种特殊的类型 通过一条复杂的途径产生单倍体配子的细胞分裂 需要数百个基因，其中一些是减数分裂细胞和 其他在他们的表达中无处不在的。在不同的生物体中 酵母对小鼠来说，许多基因的突变可能导致减数分裂特有的缺陷或 导致与体细胞缺陷相关的减数分裂缺陷，如 是由DNA修复缺陷引起的肿瘤。尽管减数分裂很可能是 在整个进化过程中，人们对减数分裂的遗传学知之甚少 在人类中，即使减数分裂停滞很可能与 无精子症(不产生精子)或少精子症(产生精子 少于一百万个精子/毫升)可能很常见。这一观察结果促使 Reijo博士回答了这些问题：1)有些男性的精子非常少或没有吗 无精子症基因中缺失的嵌合体计数 与减数分裂的进展有关吗？2)一些人的减数分裂很少吗？ 有多少精子在重组或DNA修复方面有缺陷？如果是，这些缺陷是 在诊所宣传儿童的努力中被绕过，而不考虑 在以后的生活中可能出现的其他有害影响？在这部作品中，他们 总体假设是，参与减数分裂的基因缺陷，如DAZ， 而重组和DNA修复所需的那些可能会导致减数分裂停滞 (在粗线期检查点)，就像这些基因的缺陷会导致 其他生物的减数分裂停滞。他们在过去四年中的研究 确定了许多男性不育症是遗传的，而且 通过目前的临床实践，不孕不育可以从父亲传给儿子。 最近，他们收集了初步数据，表明DNA修复 在减数分裂停滞的不育男性中发生缺陷的频率比在 有生育能力的男人。他们建议扩展他们的发现，并使用他们的新技术 用单精子聚合酶链式反应检测人类生殖遗传学 不育男性生殖细胞DNA修复和DNA修复中DAZ缺失和缺陷 重组。

DESCRIPTION: (Adapted from the applicant's abstract) Meiosis is a special type of cell division that yields haploid gametes via a complex pathway that likely requires hundreds of genes, some of which are specified to meiotic cells and others which are ubiquitous in their expression. In diverse organisms from yeast to mice, mutations in many genes may lead to meiosis-specific defects or lead to defects in meiosis that are associated with somatic cell defects such as tumors caused by defective DNA repair. Although it is likely that meiosis is conserved throughout evolution, little is known about the genetics of meiosis in humans even though it is likely that meiotic arrest associated with azoospermia (the production of no sperm) or oligospermia (the production of less that one million sperm/ml) may be common. This observation has prompted Dr. Reijo to address the questions: 1) Are some men with very low or no sperm counts mosaic for deletions of the Deleted in AZoospermia genes which are implicated in progression through meiosis? 2) Do some men with very low numbers of sperm have a defect in recombination or DNA repair? If so, are these defects being bypassed in efforts to propagate children in the clinic without regard to other deleterious effects that may present later in life? In this work, their overall hypothesis is that defects in genes involved in meiosis, such as DAZ, and those required for recombination and DNA repair may cause meiotic arrest (at a pachytene I checkpoint) in men just as defects in these genes cause meiotic arrest in other organisms. Their research over the last four years established that many cases of infertility in men are genetic and that infertility can be passed from father to son via current clinical practice. More recently they have collected preliminary data that suggest that DNA repair defects occur more frequently in infertile men with meiotic arrest than in fertile men. They propose to extend their findings and use their new technology in the genetics of human reproduction by using single sperm PCR to examine the germ cells of infertile men for DAZ deletions and defects in DNA repair and recombination.