球形红细胞增多症定位于8号或12号染色体及一个球形红细胞增多症与相互易位家系的报告
Localization of spherocytosis to chromosome 8 or 12 and report of a family with spherocytosis and a reciprocal translocation.
作者信息
Kimberling W J, Fulbeck T, Dixon L, Lubs H A
出版信息
Am J Hum Genet. 1975 Sep;27(5):586-94.
Abstract
Significant linkage was found between spherocytosis and a translocation involving the short arms of chromosomes 8 and 12. The gene for spherocytosis, therefore, is likely either very close to the centromere of chromosome 8 or on 12p. The unusually high frequency of spontaneous abortion in this family was probably due to this translocation and was unrelated to the spherocytosis.
摘要
发现球形红细胞增多症与涉及8号和12号染色体短臂的易位之间存在显著连锁。因此，球形红细胞增多症基因可能非常靠近8号染色体的着丝粒，或者位于12p上。该家族中异常高的自然流产频率可能是由于这种易位，与球形红细胞增多症无关。
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