ISOLATION OF SEQUENCES THAT SPAN THE FRAGILE-X AND IDENTIFICATION OF A FRAGILE-X RELATED CPG ISLAND

被引:174
作者
HEITZ, D
ROUSSEAU, F
DEVYS, D
SACCONE, S
ABDERRAHIM, H
LEPASLIER, D
COHEN, D
VINCENT, A
TONIOLO, D
DELLAVALLE, G
JOHNSON, S
SCHLESSINGER, D
OBERLE, I
MANDEL, JL
机构
[1] UNIV PAVIA, DIPARTIMENTO GENET & MICROBIOL, I-27100 PAVIA, ITALY
[2] CTR ETUD POLYMORPHISME HUMAIN, F-75010 PARIS, FRANCE
[3] CNR, IST GENET BIOCHIM & EVOLUT, I-27100 PAVIA, ITALY
[4] WASHINGTON UNIV, SCH MED, CTR GENET MED, ST LOUIS, MO 63110 USA
关键词
D O I
10.1126/science.2006411
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Yeast artificial chromosomes (YACs) were obtained from a 550-kilobase region that contains three probes previously mapped as very close to the locus of the fragile X syndrome. These YACs spanned the fragile site in Xq27.3 as shown by fluorescent in situ hybridization. An internal 200-kilobase segment contained four chromosomal breakpoints generated by induction of fragile X expression. A single CpG island was identified in the cloned region between markers DXS463 and DXS465 that appears methylated in mentally retarded fragile X males, but not in nonexpressing male carriers of the mutation nor in normal males. This CpG island may indicate the presence of a gene involved in the clinical phenotype of the syndrome.
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页码:1236 / 1239
页数:4
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