Fragile X gene stability in Basque Valleys: prevalence of premutation and intermediate alleles.
Fragile X syndrome is the most common form of inherited mental retardation. The molecular basis is usually the unstable expansion of a CGG repeat in the FMR1 gene. We previously analyzed a sample of two Basque valleys. In the present work we extend the study to another five isolated valleys. The results show that differences in factors implicated in CGG repeat instability--CGG repeat size, XS548/FRAXAC1 haplotypes, and AGG interspersion pattern-are present in the Basque populations analyzed.
Arrieta
I
I
Department of Genetics, Faculty of Science and Technology, University of the Basque Country, Bilbao, Spain.
Télez
M
M
Huerta
I
I
Flores
P
P
Criado
B
B
Ramírez
J M
JM
Barasoain
M
M
Gónzalez
A J
AJ
D000483:Alleles; D016009:Chi-Square Distribution; D004268:DNA-Binding Proteins / Q000235:genetics; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D015995:Prevalence; D013030:Spain / Q000453:epidemiology; D018911:Trinucleotide Repeats; D044465:White People / Q000235:genetics
D004268:DNA-Binding Proteins; D051860:Fragile X Messenger Ribonucleoprotein 1; D005819:Genetic Markers; C106905:CGGBP1 protein, human