Guttenbach M, Engel W, Schmid M
Institut für Humangenetik, Biozentrum, Würzburg, Germany.
Hum Genet. 1997 Jul;100(1):1-21. doi: 10.1007/s004390050459.
Sperm chromosome analysis offers the opportunity to gather information about the origin of chromosome aberrations in human germ cells. Over the last 20 years more than 20,000 sperm chromosome complements from normal donors and almost 6000 spermatozoa from men with constitutional chromosome aberrations (inversions, translocations) have been analyzed for structural and numerical chromosome abnormalities, as well as for segregation of the constitutional chromosome aberrations after the sperm had penetrated hamster oocytes. On the other hand, it took only 6 years to screen more than 3 million mature spermatozoa from healthy probands for disomy rates of 20 autosomes (chromosomes 19 and 22 not evaluated) and the sex chromosomes, and for diploidy rates by in situ hybridization techniques. In the present paper the results arising from both methods are compiled and compared.
精子染色体分析为收集有关人类生殖细胞中染色体畸变起源的信息提供了契机。在过去20年里，已对来自正常供体的20000多个精子染色体组以及来自患有染色体结构畸变（倒位、易位）男性的近6000个精子进行了分析，以检测染色体结构和数目异常，以及精子穿透仓鼠卵母细胞后染色体结构畸变的分离情况。另一方面，仅用了6年时间就通过原位杂交技术对来自健康受试者的300多万个成熟精子进行了筛查，以检测20条常染色体（未评估19号和22号染色体）和性染色体的二体率以及二倍体率。在本文中，对这两种方法所得出的结果进行了汇总和比较。
