CHARACTERIZATION OF A HIGHLY POLYMORPHIC DINUCLEOTIDE REPEAT 150-KB PROXIMAL TO THE FRAGILE-X SITE

被引：68

作者：

RIGGINS, GJ

SHERMAN, SL

OOSTRA, BA

SUTCLIFFE, JS

FEITELL, D

NELSON, DL

VANOOST, BA

SMITS, APT

RAMOS, FJ

PFENDNER, E

KUHL, DPA

CASKEY, CT

WARREN, ST

机构：

[1] EMORY UNIV,SCH MED,HOWARD HUGHES MED INST,ATLANTA,GA 30322

[2] EMORY UNIV,SCH MED,DEPT PEDIAT,ATLANTA,GA 30322

[3] EMORY UNIV,SCH MED,DEPT BIOCHEM,ATLANTA,GA 30322

[4] EMORY UNIV,SCH MED,DIV MED GENET,ATLANTA,GA 30322

[5] DEPT CELL BIOL,ROTTERDAM,NETHERLANDS

[6] BAYLOR COLL MED,INST MOLEC GENET,HOUSTON,TX 77030

[7] BAYLOR COLL MED,HOWARD HUGHES MED INST,HOUSTON,TX 77030

[8] UNIV HOSP NIJMEGEN,DEPT HUMAN GENET,NIJMEGEN,NETHERLANDS

[9] ALBERT EINSTEIN MED CTR,NO DIV,DEPT MED GENET,PHILADELPHIA,PA 19141

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 1-2期

关键词：

FRAGILE-X; LINKAGE; DINUCLEOTIDE REPEAT; X-LINKED MENTAL RETARDATION;

D O I：

10.1002/ajmg.1320430138

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Fragile X [fra (X)] syndrome is a frequently encountered form of mental retardation and is inherited as an X-linked semi-dominant trait with reduced penetrance. We report here the characterization of a highly polymorphic dinucleotide repeat, DXS 548, which is approximately 150 kb proximal to the fra(X) site and the associated FMR-1 gene. DXS 548 is tightly linked to the fra(X) syndrome locus (FRAXA) without recombination (LOD = 9.07 with q of 0) in selected families with crossovers between FRAXA and very closely linked flanking markers. This dinucleotide repeat could be useful in determining the parental origin of a new fra(X) mutations and evaluating the role of FMR-1 in X-linked non-specific mental retardation.

引用

页码：237 / 243

页数：7

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