Goldman A S, Fomina Z, Knights P A, Hill C J, Walker A P, Hultén M A
Regional Genetics Services, Yardley Green Unit, East Birmingham Hospital, UK.
Eur J Hum Genet. 1993;1(4):325-34. doi: 10.1159/000472431.
In situ hybridisation technology provides a new tool for chromosome analysis of human spermatozoa. We have used dual-colour fluorescence in situ with probes specific for the X and Y chromosomes and chromosomes 1 and 12 to (a) identify the primary male gametic sex chromosome ratio; (b) assess the number of numerical sex chromosome abnormalities, and (c) quantify the incidence of diploid sperm. We have examined over 60,000 sperm from three normal males and found the primary sex ratio to be indistinguishable from unity. The frequency of hyperhaploid sperm was 0.8, 1.03 and 2.27 per thousand for XX, YY and XY respectively, whilst 1.67 per thousand sperm were diploid. A comparison of our results with estimates of sex chromosome aneuploidy in human populations suggests that sperm carrying two sex chromosomes may be at a selective disadvantage.
原位杂交技术为人类精子的染色体分析提供了一种新工具。我们使用了针对X和Y染色体以及1号和12号染色体的特异性探针进行双色荧光原位杂交，以（a）确定主要雄配子性染色体比例；（b）评估性染色体数目异常的数量，以及（c）量化二倍体精子的发生率。我们检查了来自三名正常男性的超过60000个精子，发现主要性别比例与1无显著差异。XX、YY和XY超单倍体精子的频率分别为每千个0.8、1.03和2.27，而每千个精子中有1.67个是二倍体。将我们的结果与人群中性染色体非整倍体的估计值进行比较表明，携带两条性染色体的精子可能处于选择劣势。
