LOW-COPY-NUMBER REPEAT SEQUENCES FLANK THE DIGEORGE VELO-CARDIO-FACIAL SYNDROME LOCI AT 22Q11

被引：76

作者：

HALFORD, S

LINDSAY, E

NAYUDU, M

CAREY, AH

BALDINI, A

SCAMBLER, PJ

机构：

[1] ST MARYS HOSP,SCH MED,DEPT BIOCHEM & MOLEC GENET,LONDON W2 1PG,ENGLAND

[2] ICRF,GENOME ANAL LAB,LONDON WC2A 3PX,ENGLAND

[3] UNIV BATH,DEPT BIOCHEM,BATH BA2 7AY,AVON,ENGLAND

[4] ROCHE INST,NEWARK,NJ

[5] CNR,IST GENET MOLEC,PORTO CONTE RES & TRAINING LABS,ALGHERO,ITALY

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 02期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1093/hmg/2.2.191

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

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页码：191 / 196

页数：6

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