LOW-COPY-NUMBER REPEAT SEQUENCES FLANK THE DIGEORGE VELO-CARDIO-FACIAL SYNDROME LOCI AT 22Q11
LOW-COPY-NUMBER REPEAT SEQUENCES FLANK THE DIGEORGE VELO-CARDIO-FACIAL SYNDROME LOCI AT 22Q11
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DOI：
10.1093/hmg/2.2.191
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发表时间：
1993-02-01
影响因子：
3.5
通讯作者：
SCAMBLER, PJ
中科院分区：
文献类型：
--
作者：
HALFORD, S;LINDSAY, E;SCAMBLER, PJ
DiGeorge综合征和腭-心-面综合征与22 q11内的缺失相关。在试图完善这些综合征的重叠最短的区域，我们采用荧光原位杂交。一些探针获得的结果表明，存在低拷贝数的重复家庭分散通过近端22 q。已经检查了几种灵长类物种是否存在两个定位于pter-22 q11的序列。结果表明，这些序列的进化起源相对较近，在灵长类动物进化过程中丢失了一个序列。
DiGeorge syndrome and velo-cardio-facial syndrome are associated with deletions within 22q11. In attempting to refine the shortest region of overlap for these syndromes we have employed fluoresence in situ hybridisation. The results obtained for some probes indicate the presence of low-copy-number repeat families dispersed through proximal 22q. Several primate species have been examined for the presence or absence of two sequences mapping to pter-22q11. The results suggest a relatively recent evolutionary origin for these sequences and the loss of one sequence during the course of primate evolution.