位于12号染色体上一个需要溴脱氧尿苷的脆性位点。
A BrdU-requiring fragile site on chromosome 12.
作者信息
Voiculescu I, Hausmann C, Wolff G, Back E
机构信息
Institut für Humangenetik und Anthropologie Universität, Freiburg i.Br., Federal Republic of Germany.
出版信息
Hum Genet. 1988 Feb;78(2):183-5. doi: 10.1007/BF00278193.
A BrdU-requiring fragile site, fra(12)(q24.2), on human chromosome 12 of some individuals is reported. This fragile site is inherited in a Mendelian codominant fashion and does not seem to be associated with any physical or mental abnormality in carriers. It was mostly observed as a chromatid gap: no acentric fragments, triradials or deleted chromosomes were found. The fra(12)(q24.2) was expressed in 34%-48% of metaphases in lymphocyte cultures from carriers when BrdU and FdU were added 6.5 h before harvest, while the expression ranged between 5% and 20% when the cultures were treated with BrdU alone. The fra(12)(q24.2) represents the second BrdU-requiring rare fragile site described on human chromosomes.
据报道，一些个体的人类12号染色体上存在一个需要5-溴脱氧尿嘧啶核苷（BrdU）的脆性位点，即fra(12)(q24.2)。该脆性位点以孟德尔共显性方式遗传，且携带者似乎未出现任何身体或精神异常。它主要表现为染色单体间隙：未发现无着丝粒片段、三射体或缺失染色体。当在收获前6.5小时添加BrdU和氟脱氧尿苷（FdU）时，携带者淋巴细胞培养物中34%-48%的中期相中可表达fra(12)(q24.2)，而仅用BrdU处理培养物时，其表达率在5%至20%之间。fra(12)(q24.2)是人类染色体上描述的第二个需要BrdU的罕见脆性位点。
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