人类精子中的染色体断裂，布卢姆综合征突变的杂合效应。

Martin R H, Rademaker A, German J

Department of Pediatrics, University of Calgary, Alberta, Canada.

Am J Hum Genet. 1994 Dec;55(6):1242-6.

The chromosome complements of 662 spermatozoa produced by the three fathers of individuals with Bloom syndrome (BS) were analyzed to determine whether the BS mutation could affect chromosome segregation and the frequency of aneuploidy in sperm. The frequency of numerical abnormalities was not significantly different from that in normal controls studied in our laboratory, but the frequencies of structural abnormalities were significantly increased in two of the men, 14.3% and 15.9%, versus 8.6% in controls. More striking was the increase in these two men of cells with multiple structural abnormalities: 8.1% and 6.7% with multiple abnormalities, versus 2.3% in controls.

对患有布卢姆综合征（BS）个体的三位父亲所产生的662个精子的染色体组进行了分析，以确定BS突变是否会影响精子中的染色体分离及非整倍体频率。数值异常的频率与我们实验室研究的正常对照相比无显著差异，但其中两名男性的结构异常频率显著增加，分别为14.3%和15.9%，而对照为8.6%。更显著的是，这两名男性中具有多种结构异常的细胞有所增加：有多种异常的细胞分别为8.1%和6.7%，而对照为2.3%。