Department of Otolaryngology, Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China.
Am J Hum Genet. 2013 Feb 7;92(2):301-6. doi: 10.1016/j.ajhg.2012.12.015. Epub 2013 Jan 24.
A single Mendelian trait has been mapped to the human Y chromosome: Y-linked hearing impairment. The molecular basis of this disorder is unknown. Here, we report the detailed characterization of the DFNY1 Y chromosome and its comparison with a closely related Y chromosome from an unaffected branch of the family. The DFNY1 chromosome carries a complex rearrangement, including duplication of several noncontiguous segments of the Y chromosome and insertion of ∼160 kb of DNA from chromosome 1, in the pericentric region of Yp. This segment of chromosome 1 is derived entirely from within a known hearing impairment locus, DFNA49. We suggest that a third copy of one or more genes from the shared segment of chromosome 1 might be responsible for the hearing-loss phenotype.
一种单基因孟德尔性状已被定位到人类 Y 染色体上:Y 连锁听力障碍。该疾病的分子基础尚不清楚。在这里,我们报告了 DFNY1 染色体的详细特征及其与家族中未受影响分支的密切相关 Y 染色体的比较。DFNY1 染色体携带复杂的重排,包括 Y 染色体几个不连续片段的重复以及 160kb 左右来自 1 号染色体的 DNA 的插入,位于 Yp 的着丝粒区。1 号染色体的这一片段完全来自已知的听力障碍基因座 DFNA49。我们推测,来自 1 号染色体共享片段的一个或多个基因的第三个拷贝可能是导致听力丧失表型的原因。