11号染色体长臂1区3带和12号染色体长臂1区3带的遗传性脆性

Heritable fragility at 11q13 and 12q13.

作者信息

Smeets D F, Scheres J M, Hustinx T W

出版信息

Clin Genet. 1985 Aug;28(2):145-50. doi: 10.1111/j.1399-0004.1985.tb00374.x.

DOI:10.1111/j.1399-0004.1985.tb00374.x

Abstract

The chromosomes of two mentally retarded probands were investigated because they were suspected of having the fragile X syndrome. However two other fragilities were detected. In one patient a fra(11)(q13) was found and in the other a fra(12)(q13). Family studies revealed that both fragile sites were real heritable ones. Besides these two heritable fragile sites, the common fragile site at 3p14 was frequently observed. The effects of BUdR, FUdR and methotrexate on the frequency of the three fragilities were studied. The two heritable fragile sites differed from the common fragile site at 3p14 with respect to their inducibility by FUdR and methotrexate.

摘要

对两名智障先证者的染色体进行了研究，因为怀疑他们患有脆性X综合征。然而，检测到了另外两种脆性位点。在一名患者中发现了fra(11)(q13)，在另一名患者中发现了fra(12)(q13)。家系研究表明，这两个脆性位点都是真正可遗传的。除了这两个可遗传的脆性位点外，还经常观察到3p14处的常见脆性位点。研究了溴脱氧尿苷（BUdR）、氟脱氧尿苷（FUdR）和甲氨蝶呤对这三种脆性位点频率的影响。这两个可遗传的脆性位点在对FUdR和甲氨蝶呤的诱导性方面与3p14处的常见脆性位点不同。