[可变数目串联重复序列聚合酶链反应在遗传性视网膜母细胞瘤基因突变诊断中的应用]
[VNTR-PCR in diagnosis of inherited Rb gene mutation].
作者信息
Zajaczek S, Górski B, Débniak T, Podolski J, Lubiński J, Krzystolik Z, Iwanicka T, Sagan Z
机构信息
Zakładu Genetyki i Patomorfologii, Szczecin.
出版信息
Klin Oczna. 1994 Aug-Sep;96(8-9):290-2.
PMID:7897998
Abstract
Molecular genetic analysis of DNA by PCR-VNTR was performed in a family with hereditary retinoblastoma presenting some difficulties in pedigree analysis. PCR-VNTR allowed to perform a more accurate counselling in this family. Analysis of the way of transmission, carrier status exclusion (in two persons) and confirmation (in one) was possible only by VNTR-PCR.
摘要
通过聚合酶链反应-可变数目串联重复序列（PCR-VNTR）对一个遗传性视网膜母细胞瘤家族的DNA进行分子遗传学分析，该家族在系谱分析中存在一些困难。PCR-VNTR使得在这个家族中能够进行更准确的遗传咨询。只有通过VNTR-PCR才能分析其遗传方式、排除（两人）携带者状态以及确认（一人）携带者状态。
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