Resequencing candidate genes for male spermatogenic impairment

This study aims to identify novel candidate variants from human Y-chromosomal genes DAZ, BPY2 and CDY1 by resequencing the coding regions of these genes from male patients with spermatogenic impairment.
The coding regions of the genes have been amplified by standard PCR, amplicon lengths range from 244 to 486 bp. A total of 61 amplicons were amplified for each of the 96 patients, totalling to approx. 25 kb per sample. Amplicons were quantified by gel electrophoresis and pooled in approx. equimolar concentrations per patient. For each of the 96 submitted samples, approx. 1 microgram of amplified DNA pool is provided in a total volume of 120 microlitres.
The samples need to be indexed and libraries prepared for a PE250bp Illumina MiSeq run.
This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/EGA study EGAS00001002157

本研究旨在对罹患生精障碍的男性患者的人类Y染色体基因DAZ、BPY2及CDY1的编码区进行重测序，以发掘新型候选变异位点。
上述基因的编码区通过标准聚合酶链式反应（PCR）进行扩增，扩增子（amplicon）长度介于244至486碱基对（bp）之间。96名患者的每一例均扩增得到61个扩增子，单样本总扩增产物长度约为25千碱基对（kb）。
扩增子通过凝胶电泳（gel electrophoresis）进行定量，并按患者样本将扩增子混合至近似等摩尔浓度。本次提交的96份样本中，每份样本在120微升总体系内提供约1微克的扩增DNA混合产物。
所有样本需完成索引构建并制备文库，以用于PE250bp的Illumina MiSeq测序运行。
本数据集属于预发布数据。如需了解威康信托桑格研究所（Wellcome Trust Sanger Institute）共享的预发布数据的规范使用方式（包括任何出版embargo相关细节），请访问http://www.sanger.ac.uk/datasharing/EGA study EGAS00001002157查阅相关说明。