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视网膜母细胞瘤基因(Rb-1)染色体定位的家系研究。

Family studies on the chromosomal location of the retinoblastoma gene (Rb-1).

作者信息

Morten J, Harnden D G, Bundey S

出版信息

J Med Genet. 1982 Apr;19(2):120-4. doi: 10.1136/jmg.19.2.120.

Abstract

The segregation of chromosomes 13 distinguishable by Q band fluorescent polymorphisms has been studied in three families with retinoblastoma. The recombination fraction for two of these families and four families previously reported did not differ significantly from 50%. Since a high recombination fraction has been predicted from chiasma frequency between the centromere of chromosome 13 and 13q14 these results neither confirm nor refute the location of the autosomal dominant gene predisposing to retinoblastoma in 13q14. The use of fluorescent markers is not suitable for early recognition of gene carriers in families with retinoblastoma.

摘要

在三个视网膜母细胞瘤家族中,研究了通过Q带荧光多态性可区分的13号染色体的分离情况。其中两个家族以及先前报道的四个家族的重组率与50%无显著差异。由于根据13号染色体着丝粒与13q14之间的交叉频率预测出较高的重组率,因此这些结果既未证实也未反驳视网膜母细胞瘤常染色体显性致病基因位于13q14的观点。荧光标记物不适用于视网膜母细胞瘤家族中基因携带者的早期识别。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ddb2/1048841/97e75ed8a1d1/jmedgene00112-0043-a.jpg

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