EVIDENCE OF FOUNDER CHROMOSOMES IN FRAGILE-X SYNDROME

被引：171

作者：

RICHARDS, RI

HOLMAN, K

FRIEND, K

KREMER, E

HILLEN, D

STAPLES, A

BROWN, WT

GOONEWARDENA, P

TARLETON, J

SCHWARTZ, C

SUTHERLAND, GR

机构：

[1] ADELAIDE CHILDRENS HOSP INC,DEPT MED GENET & EPIDEMIOL,ADELAIDE,SA 5006,AUSTRALIA

[2] NEW YORK STATE INST BASIC RES DEV DISABILITIES,DEPT HUMAN GENET,STATEN ISL,NY 10314

[3] N SHORE UNIV HOSP,DEPT PEDIAT,MANHASSET,NY 11030

[4] GREENWOOD GENET CTR,GREENWOOD,SC 29646

来源：

NATURE GENETICS | 1992年 / 1卷 / 04期

关键词：

D O I：

10.1038/ng0792-257

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The mutation responsible for fragile X syndrome and myotonic dystrophy involves the amplification of a simple trinucleotide repeat sequence, which increases in successive generations of affected pedigrees accounting for increasing penetrance of both disorders. This common molecular basis suggests that the two diseases may share other genetic features, but whereas myotonic dystrophy exhibits a significant founder chromosome effect, fragile X syndrome apparently has a very high mutation frequency. By haplotype analysis of microsatellite markers which flank the fragile X unstable element, we have uncovered evidence of founder chromosomes of the fragile X 'mutation'. Disorders caused by heritable unstable elements may therefore exhibit common genetic properties including anticipation and founder chromosomes.

引用

页码：257 / 260

页数：4

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