摘要
应用Ｒｂ基因内探针ｐ６８ＲＳ２．０，ｐ１２３Ｍ１．８及ＰＣＲ扩增Ｒｂ基因内多态位点Ｒｂｌ．２０及ＸｂａＩ，对６个遗传性Ｒｂ家系进行连锁分析，结果６个家系均可获得信息。证实以上方法可用于遗传性视网膜母细胞瘤突变基因携带者的检测，为产前诊断提供了有效途径。
Retinoblastoma(Rb)is one of the most common intraocular tumors in childhood.40% of the cases are hereditary in nature.10%are due to the transmission of a germline mutation from an affected parent,and 30%are due to new germ cell mutation.In the hereditary form,the mutation is inherited via a germ cell; therefore,the mutant gene is present in allsomatic cells.The segregations of four polymorphic sites within the Rb gene were analyzedin six farmilies with hereditary retinoblastoma.Two families were informed with probe p123M1.8,three were informed with probe p68RS2.0 and one was informed with PCR amplification of XbaI site;all six families were informed with PCR amplification of intragenic VNTR site Rb1.20. Our results showed that linkage analysis of families with hereditary retinoblastoma by using intrageneic polymorphic sites could be applied to detect carriers and for prenatal diagnosis in families with hereditary retinoblastorna.
出处
《中国医学科学院学报》
CAS
CSCD
北大核心
1995年第5期338-342,共5页
Acta Academiae Medicinae Sinicae
基金
国家自然科学基金
关键词
视网膜母细胞瘤
隐性抑癌基因
聚合酶链反应
retinoblastoma
recessive oncogene suppressor
polymerase chain reaction
