Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site.
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.
Riggins
G J
GJ
Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322.
Sherman
S L
SL
Oostra
B A
BA
Sutcliffe
J S
JS
Feitell
D
D
Nelson
D L
DL
van Oost
B A
BA
Smits
A P
AP
Ramos
F J
FJ
Pfendner
E
E
D001483:Base Sequence; D002873:Chromosome Fragility; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D014960:X Chromosome
D004247:DNA