PHYSICAL MAPPING ACROSS THE FRAGILE-X - HYPERMETHYLATION AND CLINICAL EXPRESSION OF THE FRAGILE-X SYNDROME

被引：305

作者：

BELL, MV

HIRST, MC

NAKAHORI, Y

MACKINNON, RN

ROCHE, A

FLINT, TJ

JACOBS, PA

TOMMERUP, N

TRANEBJAERG, L

FROSTERISKENIUS, U

KERR, B

TURNER, G

LINDENBAUM, RH

WINTER, R

PEMBREY, M

THIBODEAU, S

DAVIES, KE

机构：

[1] GEN HOSP, WESSEX REG GENET LAB, SALISBURY SP2 7SX, WILTS, ENGLAND

[2] ULLEVAL HOSP, DEPT MED GENET, N-0315 OSLO 3, NORWAY

[3] UNIV TROMSO, N-9001 TROMSO, NORWAY

[4] REG HOSP CORK, POLAR INST MED GENET, N-9012 TROMSO, NORWAY

[5] LUBECK MED UNIV, DEPT GYNAECOL & OBSTET, W-2400 LUBECK, GERMANY

[6] PRINCE WALES HOSP, DEPT MED GENET, RANDWICK, NSW 2031, AUSTRALIA

[7] CHURCHILL HOSP, DEPT MED GENET, OXFORD OX3 7LJ, ENGLAND

[8] NORTHWICK PK HOSP & CLIN RES CTR, CLIN RES INST, NW THAMES REG GENET SERV, HARROW HA1 3UJ, MIDDX, ENGLAND

[9] UNIV LONDON, INST CHILD HLTH, MOTHERCARE UNIT, LONDON WC1, ENGLAND

[10] MAYO CLIN & MAYO FDN, DEPT LAB MED, ROCHESTER, MN 55905 USA

来源：

CELL | 1991年 / 64卷 / 04期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1016/0092-8674(91)90514-Y

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：

The most common genetic cause of mental retardation after Down's syndrome, the fragile X syndrome, is associated with the occurrence of a fragile site at Xq27.3. This X-linked disease is intriguing because transmission can occur through phenotypically normal males. Theories to explain this unusual phenomenon include genomic rearrangements and methylation changes associated with a local block of reactivation of the X chromosome. Using microdissected markers close to the fragile site, we have been able to test these hypotheses. We present evidence for the association of methylation with the expression of the disease. However, there is no simple relationship between the degree of methylation and either the level of expression of the fragile site or the severity of the clinical phenotype.

引用

页码：861 / 866

页数：6

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