Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome.
Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome.
复制标题
使用基于 PCR 的多态性对 4p 缺失进行分子检测：一种快速检测 Wolf-Hirschhorn 综合征的技术。
DOI：
10.1002/ajmg.1320440413
复制
发表时间：
1992
期刊：
影响因子：
--
通讯作者：
Johnson,VP
中科院分区：
文献类型：
--
作者：
Altherr,MR;Gusella,JF;Wasmuth,JJ;Kummer,MA;McKercher,SW;Johnson,VP
Wolf-Hirschhorn综合征（WHS）是由染色体4p的部分缺失引起的。WHS中4p的缺失区域位于4p的顶端附近。该区域的两个位点D4 S95和D4 S125与高信息量的VNTR多态性相关，最近被转换为允许基于PCR的筛选。PCR分析被成功地用于确定一个小的从头缺失的4p在病人怀疑有WHS。该程序允许在仅细胞遗传学不能提供明确答案的情况下快速准确地确认4p缺失。© Wiley利斯公司
Wolf–Hirschhorn syndrome (WHS) results from a deletion of part of chromosome 4p. The region of 4p consistently deleted in WHS is near the tip of 4p. Two loci in this region D4S95 and D4S125 are associated with highly informative VNTR polymorphisms and were recently converted to allow PCR‐based screening. PCR analysis was used successfully to identify a small de novo deletion of 4p in a patient suspected of having WHS. This procedure allows a rapid and accurate confirmation of 4p deletions in cases where cytogenetics alone cannot provide a clear answer. © Wiley‐Liss, Inc.