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视网膜母细胞瘤(Rb)是儿童最常见的眼内肿瘤,遗传方式为常染色体显性遗传,RB 基因双拷贝突变也可产生 RB。携带RB 易感基因个体其它肿瘤发病率明显增加。RB 基因定位于13q14并已分离出来。已弄清RB 基因 DNA 顺序,可用 PCR 扩增二个多态位点周围侧翼顺序,对 RB 家系进行连锁分析。以往用基因内 DNA 探针对 Rb 进行产前和产后筛查,仍然有10～15％家庭或没有相关探针资料,或无关键成员 DNA 样本。本文报道一个家系,其特征是患儿几年前死于继发性肿瘤。用于扩增的 DNA 是从石
Retinoblastoma (Rb) is the most common intraocular tumor in children with autosomal dominant inheritance, and double copies of the RB gene also produce RB. The incidence of other tumors carrying RB susceptibility genes was significantly increased. The RB gene is located on 13q14 and has been isolated. Having ascertained the DNA sequence of RB gene, the flanking sequence of two polymorphic loci can be amplified by PCR, and the linkage analysis of RB pedigree was carried out. Previous genetic DNA probes for Rb prenatal and postnatal screening, there are still 10 to 15% of the family or no probe information, or no key member DNA samples. This article reports a pedigree characterized by a child who died of a secondary tumor a few years ago. The DNA used for amplification is from stone