IDENTIFICATION OF THE FRAXE FRAGILE SITE IN 2 FAMILIES ASCERTAINED FOR X-LINKED MENTAL-RETARDATION

被引：59
作者：
FLYNN, GA
HIRST, MC
KNIGHT, SJL
MACPHERSON, JN
BARBER, JCK
FLANNERY, AV
DAVIES, KE
BUCKLE, VJ
机构：
[1] JOHN RADCLIFFE HOSP,INST MOLEC MED,MOLEC HAEMATOL UNIT,OXFORD OX3 9DU,ENGLAND
[2] JOHN RADCLIFFE HOSP,INST MOLEC MED,MOLEC GENET GRP,OXFORD OX3 9DU,ENGLAND
[3] SALISBURY DIST HOSP,WESSEX REG GENET LAB,SALISBURY SP2 8BJ,ENGLAND
来源：
JOURNAL OF MEDICAL GENETICS | 1993年 / 30卷 / 02期
关键词：
D O I：
10.1136/jmg.30.2.97
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Chromosome fragility in two families not exhibiting amplification of the CGG trinucleotide associated with the fragile X site has been examined. Fluorescence in situ hybridisation with cosmid DNA from loci immediately flanking FRAXA and other distal loci have confirmed that cytogenetic fragility in these subjects is the result of expression of a new folate sensitive fragile X site, FRAXE.
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页码：97 / 100
页数：4
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